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Article: 45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome.

Han, Yu / Wu, Jiebin / Tan, Fangfang / Sha, Jing / Zhang, Bei / Zhai, Jingfang / Wang, Xuezhen

2023 Volume 2023, Page(s) 9127512

Abstract: ... chromosome, while the latter results from 45, X/46, XY mosaicism. Both of them are sex chromosome disorders ... of the embryonic gonads into testes. In this report, we described a young female with mos 45, X [2]/46, X, psu idic ... Y) (q11.2) [48] by karyotyping. Further copy number variation sequencing (CNV-seq) and fluorescent ...

Abstract	The female characters with a 46, XY karyotype, historically termed Swyer syndrome, are commonly divided into complete and partial gonadal dysgenesis. The former is completely made up of the 46, XY chromosome, while the latter results from 45, X/46, XY mosaicism. Both of them are sex chromosome disorders and are typically characterized by delayed puberty and primary amenorrhea due to disruption of the embryonic gonads into testes. In this report, we described a young female with mos 45, X [2]/46, X, psu idic (Y) (q11.2) [48] by karyotyping. Further copy number variation sequencing (CNV-seq) and fluorescent in situ hybridization (FISH) verified her chromosome alteration. The following gonadectomy and hormone replacement therapy were carried out, and the menstrual cycle recovered along with the development of bilateral breasts and uteruses. Herein, we aim to provide clinical management strategies for the patient with Swyer syndrome in clinical practice.
Language	English
Publishing date	2023-03-09
Publishing country	United States
Document type	Case Reports
ZDB-ID	2664417-4
ISSN	2090-6552 ; 2090-6544
ISSN (online)	2090-6552
ISSN	2090-6544
DOI	10.1155/2023/9127512
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Comprehensive analysis of three female patients with different types of X/Y translocations and literature review.

Liu, Shanquan / Zheng, Jiemei / Liu, Xijing / Lai, Yi / Zhang, Xuan / He, Tiantian / Yang, Yan / Wang, He / Zhang, Xuemei

Molecular cytogenetics

2023 Volume 16, Issue 1, Page(s) 7

Abstract: Background: X/Y translocations are highly heterogeneity in terms of clinical genetic effects, and ... This study comprehensively analyzed the clinical and genetic characteristics of three new patients with X/Y ... translocations. Furthermore, cases with X/Y translocations reported in the literature and studies exploring ...

Abstract	Background: X/Y translocations are highly heterogeneity in terms of clinical genetic effects, and most patients lack complete pedigree analysis for clinical and genetic characterization. Results: This study comprehensively analyzed the clinical and genetic characteristics of three new patients with X/Y translocations. Furthermore, cases with X/Y translocations reported in the literature and studies exploring the clinical genetic effects in patients with X/Y translocations were reviewed. All three female patients were carriers of X/Y translocations with different phenotypes. The karyotype for patient 1 was 46,X,der(X)t(X;Y)(p22.33;q12)mat, patient 2 was 46,X,der(X)t(X;Y)(q21.2;q11.2)dn, and patient 3 was 46,X,der(X)t(X;Y)(q28;q11.223)t(Y;Y)(q12;q11.223)mat. C-banding analysis of all three patients revealed a large heterochromatin region in the terminal region of the X chromosome. All patients underwent chromosomal microarray analysis, which revealed the precise copy number loss or gain. Data on 128 patients with X/Y translocations were retrieved from 81 studies; the phenotype of these patients was related to the breakpoint of the chromosome, size of the deleted region, and their sex. We reclassified the X/Y translocations into new types based on the breakpoints of the X and Y chromosomes. Conclusion: X/Y translocations have substantial phenotypic diversity, and the genetic classification standards are not unified. With the development of molecular cytogenetics, it is necessary to combine multiple genetic methods to obtain an accurate and reasonable classification. Thus, clarifying their genetic causes and effects promptly will help in genetic counseling, prenatal diagnosis, preimplantation genetic testing, and improvement in clinical treatment strategies.
Language	English
Publishing date	2023-05-18
Publishing country	England
Document type	Journal Article
ZDB-ID	2420849-8
ISSN	1755-8166
ISSN	1755-8166
DOI	10.1186/s13039-023-00639-z
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Article: [Genetic analysis of a fetus with de novo 46,X,der(X)t(X;Y)(q26;q11)].

Wang, Yongan / Zhang, Rong / Yin, Ting / Wang, Zhiwei / Zheng, Anshun / Wang, Leilei

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

2023 Volume 40, Issue 5, Page(s) 593–597

Abstract: Objective: To carry out prenatal genetic testing for a fetus with de novo 46,X,der(X)t(X;Y)(q26 ... q11 segment of the fetal Y chromosome was connected to the Xq26 of the X chromosome, suggesting a Xq ... of the long arm of the fetal X chromosome [arr [hg19] Xq26.3q28(133912218_154941869)×1], and 42 Mb duplication ...

Abstract	Objective: To carry out prenatal genetic testing for a fetus with de novo 46,X,der(X)t(X;Y)(q26;q11). Methods: A pregnant woman who had visited the Birth Health Clinic of Lianyungang Maternal and Child Health Care Hospital on May 22, 2021 was selected as the study subject. Clinical data of the woman was collected. Peripheral blood samples of the woman and her husband and umbilical cord blood of the fetus were collected and subjected to conventional G-banded chromosomal karyotyping analysis. Fetal DNA was also extracted from amniotic fluid sample and subjected to chromosomal microarray analysis (CMA). Results: For the pregnant women, ultrasonography at 25th gestational week had revealed permanent left superior vena cava and mild mitral and tricuspid regurgitation. G-banded karyotyping analysis showed that the pter-q11 segment of the fetal Y chromosome was connected to the Xq26 of the X chromosome, suggesting a Xq-Yq reciprocal translocation. No obvious chromosomal abnormality was found in the pregnant woman and her husband. The CMA results showed that there was approximately 21 Mb loss of heterozygosity at the end of the long arm of the fetal X chromosome [arr [hg19] Xq26.3q28(133912218_154941869)×1], and 42 Mb duplication at the end of the long arm of the Y chromosome [arr [hg19] Yq11.221qter(17405918_59032809)×1]. Combined with the search results of DGV, OMIM, DECIPHER, ClinGen and PubMed databases, and based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the deletion of arr[hg19] Xq26.3q28(133912218_154941869)×1 region was rated as pathogenic, and the duplication of arr[hg19] Yq11.221qter(17405918_59032809)×1 region was rated as variant of uncertain significance. Conclusion: The Xq-Yq reciprocal translocation probably underlay the ultrasonographic anomalies in this fetus, and may lead to premature ovarian insufficiency and developmental delay after birth. Combined G-banded karyotyping analysis and CMA can determine the type and origin of fetal chromosomal structural abnormalities as well as distinguish balanced and unbalanced translocations, which has important reference value for the ongoing pregnancy.
MeSH term(s)	Humans ; Child ; Pregnancy ; Female ; Vena Cava, Superior ; In Situ Hybridization, Fluorescence ; Chromosome Aberrations ; Karyotyping ; Translocation, Genetic ; Fetus ; Prenatal Diagnosis/methods
Language	Chinese
Publishing date	2023-04-27
Publishing country	China
Document type	English Abstract ; Journal Article
ISSN	1003-9406
ISSN	1003-9406
DOI	10.3760/cma.j.cn511374-20220728-00502
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Article: Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype.

Qin, Shengfang / Wang, Xueyan / Wang, Jin / Zhang, Zhuo / Chen, Ximin / Yin, Yan / Ye, Mengling / Li-Ling, Jesse

Molecular cytogenetics

2022 Volume 15, Issue 1, Page(s) 3

Abstract: ... an apparent 45,X karyotype. STR analysis showed that he possessed a short arm of the Y chromosome, including ... A FISH assay of DXZ1 and DYZ3 probes showed a green signal of the X centromere and a red of the Y ... Background: A rare disease is that an individual with a non-chimeric karyotype of 45,X develops ...

Abstract	Background: A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation between chromosomes Y and 15. Methods: DNA was extracted from the patient's peripheral blood. A range of genetic testing was performed, including conventional chromosomal karyotyping, short tandem repeat (STR) analysis for azoospermia factor (AZF) region, fluorescence in situ hybridization (FISH) with specific probes groups of DXZ1/DYZ3, DYZ3/D15Z1/PML and SRY/D15Z1/PML, and chromosomal microarray analysis (CMA) for genomic copy number variations (CNVs). Results: The patient was found to have an apparent 45,X karyotype. STR analysis showed that he possessed a short arm of the Y chromosome, including the SRY gene; however, he was missing the long arm of the Y chromosome, including AZFa + b + c and Yqter. A FISH assay of DXZ1 and DYZ3 probes showed a green signal of the X centromere and a red of the Y centromeric signal on a D-group-sized chromosome. By FISH assaying with D15Z1 and DYZ3 probes, chromosomes 15 and Y centromeric signals appeared closely on a single chromosome, as the PML control probe ascertained. A further FISH assay with D15Z1 and SRY probes revealed a signal of the SRY gene at the end of one arm of chromosome 15. The result of the CMA indicated a deletion with an approximate size of 45.31 Mb spanning from Yq11 to Yter. Conclusion: Our study enriched the karyotype-phenotype correlation of Y and 15 chromosomes translocation. It strengthened the critical roles of molecular genetic techniques in identifying the chromosomal breakpoints and regions involved. Genetic aetiology can guide early intervention in childhood and assisted reproduction in adulthood.
Language	English
Publishing date	2022-02-14
Publishing country	England
Document type	Journal Article
ZDB-ID	2420849-8
ISSN	1755-8166
ISSN	1755-8166
DOI	10.1186/s13039-022-00581-6
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Article ; Online: Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases.

Liu, Xijing / Zhang, Zhu / Zhang, Xuan / Wang, Jiamin / Jiang, Jieni / Li, Lingping / Wang, He / Liu, Shanling / Hu, Ting

Prenatal diagnosis

2024

Abstract: ... of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying SRY ... inherited unbalanced X; Y translocations carrying SRY and skewed XCI presenting with normal female external ... genitalia.: Conclusion: This study reports that cases with unbalanced X; Y translocations carrying SRY ...

Abstract	Background: Generally, the translocation of SRY onto one of the X chromosomes leads to 46, XX testicular disorders of sex development, a relatively rare condition characterized by the presence of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying SRY were identified in this study. Methods: Structural variants were confirmed using single nucleotide polymorphism array and chromosomal karyotyping. X chromosome inactivation (XCI) was also analyzed. Detailed clinical features of the three cases were collected. Results: We identified two fetuses with maternal inherited unbalanced X; Y translocations carrying SRY and skewed XCI presenting with normal female external genitalia, and one fetus with de novo 46, XX (SRY+) and random XCI manifested male phenotypic external genitalia. Conclusion: This study reports that cases with unbalanced X; Y translocations carrying SRY manifested a normal female external genitalia in a prenatal setting. We speculate that the skewed XCI mediates the silence of SRY. In addition, our study emphasizes that combining clinical findings with pedigree analysis is critical for estimating the prognosis of fetuses with sex chromosome abnormalities.
Language	English
Publishing date	2024-01-10
Publishing country	England
Document type	Journal Article
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.6520
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Article ; Online: Two dimensional Janus RuXY (X, Y = Br, Cl, F, I, X ≠ Y) monolayers: ferromagnetic semiconductors with spontaneous valley polarization and tunable magnetic anisotropy.

Liu, Ziyu / Zhou, Baozeng / Wang, Xiaocha / Mi, Wenbo

Physical chemistry chemical physics : PCCP

2023 Volume 25, Issue 37, Page(s) 25146–25156

Abstract: ... to their asymmetrical structures. In this work, the electronic structure and magnetic properties of Janus RuXY (X, Y ... Br, Cl, F, I, X ≠ Y) monolayers are systematically studied using first-principles calculations ...

Abstract	Two-dimensional (2D) ferromagnetic (FM) materials with valley polarization are highly desirable for use in valleytronic devices. The 2D Janus materials have fascinating physical properties due to their asymmetrical structures. In this work, the electronic structure and magnetic properties of Janus RuXY (X, Y = Br, Cl, F, I, X ≠ Y) monolayers are systematically studied using first-principles calculations. RuBrCl, RuBrF, and RuClF monolayers are all FM semiconductors. The valley polarization is present in the band structure and this is determined by the spin orbit coupling (SOC). The valley splitting energy of the RuClF monolayer is as large as 204 meV, with a perpendicular magnetic anisotropy (PMA) energy of 1.918 mJ m
Language	English
Publishing date	2023-09-27
Publishing country	England
Document type	Journal Article
ZDB-ID	1476244-4
ISSN	1463-9084 ; 1463-9076
ISSN (online)	1463-9084
ISSN	1463-9076
DOI	10.1039/d3cp02916f
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Book ; Online: Observation of non-superconducting phase changes in LuH$_{2\pm\text{x}}$N$_y$

Xing, Xiangzhuo / Wang, Chao / Yu, Linchao / Xu, Jie / Zhang, Chutong / Zhang, Mengge / Huang, Song / Zhang, Xiaoran / Yang, Bingchao / Chen, Xin / Zhang, Yongsheng / Guo, Jian-gang / Shi, Zhixiang / Ma, Yanming / Chen, Changfeng / Liu, Xiaobing

2023

Abstract: ... hydride LuH$_{2\pm\text{x}}$N$_y$ with the same structure and composition as in the main phase of near ... ambient superconductor1. We find a new purple phase of LuH$_{2\pm\text{x}}$N$_y$ between blue and pink ... a notable temperature-induced resistance anomaly of structural and/or electronic origin in LuH$_{2\pm\text{x ...

Abstract	The recent report of near-ambient superconductivity in nitrogen doped lutetium hydride has triggered a worldwide fanaticism and raised major questions about the latest claims. An intriguing phenomenon of color changes in pressurized samples from blue to pink to red was observed and correlated with the claimed superconducting transition, but the origin and underlying physics of these color changes have yet to be elucidated. Here we report synthesis and characterization of high-purity nitrogen doped lutetium hydride LuH$_{2\pm\text{x}}$N$_y$ with the same structure and composition as in the main phase of near-ambient superconductor1. We find a new purple phase of LuH$_{2\pm\text{x}}$N$_y$ between blue and pink phase, and reveal that the sample color changes likely stem from pressure-driven redistribution of nitrogen and its interaction with the LuH$_2$ framework. No superconducting transition is found in all blue, purple, pink and red phases at temperatures 1.8-300 K and pressures 0-30 GPa. Instead, we identify a notable temperature-induced resistance anomaly of structural and/or electronic origin in LuH$_{2\pm\text{x}}$N$_y$, which is most pronounced in the pink phase and may have been erroneously interpreted as a sign of superconducting transition. This work establishes key benchmarks for nitrogen doped lutetium hydrides, allowing an in-depth understanding of the novel pressure-induced phase changes. Comment: 17 pages and 5 figures in the main text. 9 pages and 12 figures in the Supplementary Material. Any valuable comments and suggestions are warmly welcomed
Keywords	Condensed Matter - Superconductivity ; Condensed Matter - Materials Science
Publishing date	2023-03-30
Publishing country	us
Document type	Book ; Online
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Article: Erratum: Zhao, J.; Shen, X.; Cao, X.; He, H.; Han, S.; Chen, Y.; Cui, C.; Wei, Y.; Wang, Y.; Li, D.; Zhu, Q.; Yin, H. HDAC4 Regulates the Proliferation, Differentiation and Apoptosis of Chicken Skeletal Muscle Satellite Cells.

Zhao, Jing / Shen, Xiaoxu / Cao, Xinao / He, Haorong / Han, Shunshun / Chen, Yuqi / Cui, Can / Wei, Yuanhang / Wang, Yan / Li, Diyan / Zhu, Qing / Yin, Huadong

Animals : an open access journal from MDPI

2020 Volume 10, Issue 12

Abstract: The authors wish to make the following corrections to their paper [ ... ]. ...

Abstract	The authors wish to make the following corrections to their paper [...].
Language	English
Publishing date	2020-12-07
Publishing country	Switzerland
Document type	Published Erratum
ISSN	2076-2615
ISSN	2076-2615
DOI	10.3390/ani10122322
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Article ; Online: High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line.

Chen, Chih-Ping / Chern, Schu-Rern / Chen, Shin-Wen / Wu, Fang-Tzu / Lee, Chen-Chi / Chen, Li-Feng / Chen, Yun-Yi / Wang, Wayseen

Taiwanese journal of obstetrics & gynecology

2022 Volume 61, Issue 3, Page(s) 528–531

Abstract: Objective: We present prenatal diagnosis of high-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11 ... 46,X,idic(Y)(q11.2)[4]. Prenatal ultrasound was unremarkable, and the fetus had normal male external ... revealed a karyotype of 45,X[24]/46,X,idic(Y)(q11.2)[3]. Simultaneous interphase fluorescence in situ ...

Abstract	Objective: We present prenatal diagnosis of high-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line. Case report: A 36-year-old, gravida 4, para 3, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[22]/46,X,idic(Y)(q11.2)[4]. Prenatal ultrasound was unremarkable, and the fetus had normal male external genitalia. Repeat amniocentesis was performed at 20 weeks of gestation, and the second amniocentesis revealed a karyotype of 45,X[24]/46,X,idic(Y)(q11.2)[3]. Simultaneous interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed that 60% (62/103 cells) were Y-deleted cells. After genetic counseling, the parents decided to continue the pregnancy, and a 3020-g male baby was delivered with a body length of 52 cm, normal male genital organs and no phenotypic abnormalities. The karyotypes of cord blood, umbilical cord and placenta were 45,X[20]/46,X,idic(Y)(q11.2)[20], 45,X[31]/46,X,idic(Y)(q11.2)[9] and 45,X[40], respectively. At age one month, FISH analysis on urinary cells and buccal mucosal cells revealed 11.5% (7/61 cells) and 13.6% (16/118 cells), respectively for mosaicism for the Y-deleted cells. At age five month, the karyotype of peripheral blood was 45,X[9]/46,X,idic(Y)(q11.2)[31]. FISH analysis on buccal mucosal cells showed no abnormal Y-deleted cell (0/101 cells). At age 11 month, the karyotype of peripheral blood was 45,X[5]/46,X,idic(Y)(q11.2)[35]. FISH analysis on 102 buccal mucosal cells showed no abnormal signals. The infant was doing well with normal physical and psychomotor development. Conclusion: High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis can be associated with a favorable outcome and progressive decrease of the 45,X cell line.
MeSH term(s)	Amniocentesis ; Cell Line ; Comparative Genomic Hybridization ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Male ; Mosaicism ; Pregnancy ; Trisomy
Language	English
Publishing date	2022-04-27
Publishing country	China (Republic : 1949- )
Document type	Case Reports
ZDB-ID	2202946-1
ISSN	1875-6263 ; 1875-6263
ISSN (online)	1875-6263
ISSN	1875-6263
DOI	10.1016/j.tjog.2022.03.024
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Article ; Online: 45,X/46,X,r(Y)/46,X,dic r(Y) karyotype in an azoospermic male: a case report.

Dong, Y / Yu, X W / Wang, R X / Li, L L / Jiang, Y T / Liu, R Z

Cytogenetic and genome research

2014 Volume 142, Issue 2, Page(s) 140–144

Abstract: ... 46,X,r(Y)/46,X,dic r(Y) in an azoospermic man. However, the reason for this patient's azoospermia is ... not an AZF microdeletion but might be the abnormal structure of the r(Y) chromosome, the 45,X ... Y chromosome abnormalities are frequently associated with male infertility. Men with ring Y ...

Abstract	Y chromosome abnormalities are frequently associated with male infertility. Men with ring Y chromosomes can present with sexual infantilism, ambiguous genitalia, hypospadias, or azoospermia. AZF microdeletions can result in spermatogenic defects in such patients. Here, we report an unusual karyotype of 45,X/46,X,r(Y)/46,X,dic r(Y) in an azoospermic man. However, the reason for this patient's azoospermia is not an AZF microdeletion but might be the abnormal structure of the r(Y) chromosome, the 45,X cell line, mosaicism of the 3 cell lines, or another unknown cause. In such cases, if the couple wishes to reproduce, cytogenetic, molecular and fluorescent in situ hybridization evaluations should be performed, and preimplantation genetic diagnosis should be used together with assisted reproductive technology.
MeSH term(s)	Adult ; Azoospermia/genetics ; Chromosome Banding ; Chromosomes, Human, Y/genetics ; Humans ; Karyotype ; Male ; Ring Chromosomes ; Semen ; Semen Analysis ; Sex Chromosome Aberrations ; Spermatogenesis/genetics
Language	English
Publishing date	2014
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2087824-2
ISSN	1424-859X ; 1424-8581
ISSN (online)	1424-859X
ISSN	1424-8581
DOI	10.1159/000356467
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