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  1. Article ; Online: The natural history of a clinical geneticist.

    Nowaczyk, Małgorzata J

    American journal of medical genetics. Part A

    2016  Volume 170, Issue 10, Page(s) 2591–2593

    MeSH term(s) Education, Medical, Undergraduate ; Female ; Genetics, Medical ; Humans
    Language English
    Publishing date 2016-05-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.37732
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Half As Sad: A Plea for Narrative Medicine in Pediatric Residency Training.

    Diorio, Caroline / Nowaczyk, Małgorzata

    Pediatrics

    2018  Volume 143, Issue 1

    MeSH term(s) Child ; Clinical Competence ; Curriculum ; Education, Medical/methods ; Humans ; Internship and Residency/methods ; Narrative Medicine ; Pediatrics/education ; Surveys and Questionnaires ; United States
    Language English
    Publishing date 2018-12-06
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 207677-9
    ISSN 1098-4275 ; 0031-4005
    ISSN (online) 1098-4275
    ISSN 0031-4005
    DOI 10.1542/peds.2018-3109
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Um IV Zs.131: Show issues Location:
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  3. Article ; Online: Human-important outcomes and evidence-based medicine during the coronavirus disease 2019 pandemic.

    Jaeschke, Roman / Douketis, James / Nowaczyk, Małgorzata / Guyatt, Gordon

    Polish archives of internal medicine

    2020  Volume 130, Issue 7-8, Page(s) 714–715

    MeSH term(s) Attitude of Health Personnel ; COVID-19 ; Coronavirus Infections/psychology ; Empathy ; Evidence-Based Medicine ; Humans ; Pandemics ; Physician-Patient Relations ; Pneumonia, Viral/psychology ; Professional-Family Relations
    Keywords covid19
    Language English
    Publishing date 2020-07-15
    Publishing country Poland
    Document type Letter
    ZDB-ID 123500-x
    ISSN 1897-9483 ; 0032-3772
    ISSN (online) 1897-9483
    ISSN 0032-3772
    DOI 10.20452/pamw.15514
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 360: Show issues Location:
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  4. Article: Evidence-based medicine and COVID-19: human important outcome measures. Making decisions under conditions of uncertainty

    Jaeschke, Roman / Douketis, James / Nowaczyk, Malgorzata / Guyatt, Gordon

    Polish Archives of Internal Medicine

    Keywords covid19
    Publisher WHO
    Document type Article
    Note WHO #Covidence: #656253
    Database COVID19

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  5. Article ; Online: Narrative medicine in clinical genetics practice.

    Nowaczyk, Małgorzata J M

    American journal of medical genetics. Part A

    2012  Volume 158A, Issue 8, Page(s) 1941–1947

    Abstract: Over the last 30 years medicine has undergone a significant paradigm shift. Due to the tremendous advances of modern medicine more and more people are living longer with their illnesses. These people have stories to tell, and they want these stories to ... ...

    Abstract Over the last 30 years medicine has undergone a significant paradigm shift. Due to the tremendous advances of modern medicine more and more people are living longer with their illnesses. These people have stories to tell, and they want these stories to be heard: They are reclaiming their voices. As clinical geneticists we need to hear what these voices are telling us, especially so in our area of clinical care where cures are rare, and disease states can be permanent. Narrative medicine is an important new skill set that hones abilities to do just that.This article highlights how integral narrative medicine is to clinical genetics practice, how geneticists already employ many of its tools and how they practice it diligently every day. I will show how geneticists can further improve their abilities to hear and honor patients' stories by writing and sharing stories with patients and with each other as doctors, counselors, and nurses, social workers and chaplains. The review presents the skills of close reading and how they improve patient care and illustrates how geneticists can, by using reflective writing, reshape their emotions in order to understand them, to let them go, and to make room for more. It presents the major types of illness narratives whose recognition allows us to hear and understand patients' stories. When used, the tools of narrative medicine can result in better patient care.
    MeSH term(s) Genetics, Medical ; Humans ; Narration
    Language English
    Publishing date 2012-06-29
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.35482
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  6. Article: The Role of the N-Terminal Domains of Bacterial Initiator DnaA in the Assembly and Regulation of the Bacterial Replication Initiation Complex.

    Zawilak-Pawlik, Anna / Nowaczyk, Małgorzata / Zakrzewska-Czerwińska, Jolanta

    Genes

    2017  Volume 8, Issue 5

    Abstract: The primary role of the bacterial protein DnaA is to initiate chromosomal replication. The DnaA protein binds to DNA at the origin of chromosomal replication ( ...

    Abstract The primary role of the bacterial protein DnaA is to initiate chromosomal replication. The DnaA protein binds to DNA at the origin of chromosomal replication (
    Language English
    Publishing date 2017-05-10
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes8050136
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  7. Article ; Online: Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype: a new entity?

    Nowaczyk, Małgorzata J M

    Clinical dysmorphology

    2011  Volume 20, Issue 4, Page(s) 200–204

    MeSH term(s) Adolescent ; Child ; Developmental Disabilities/diagnosis ; Face/abnormalities ; Facies ; Humans ; Karyotype ; Male ; Microcephaly/diagnosis ; Phenotype ; Somatotypes
    Language English
    Publishing date 2011-10
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/MCD.0b013e328349bdb3
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3528: Show issues Location:
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  8. Article ; Online: Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome).

    Nowaczyk, Małgorzata J M

    American journal of medical genetics. Part A

    2011  Volume 155A, Issue 4, Page(s) 940–941

    MeSH term(s) Chondrodysplasia Punctata/congenital ; Humans ; Smith-Lemli-Opitz Syndrome/diagnosis ; Smith-Lemli-Opitz Syndrome/pathology
    Language English
    Publishing date 2011-03-15
    Publishing country United States
    Document type Letter
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.33937
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  9. Article ; Online: The blemmy: A medieval grotesque inspired by iniencephaly?

    Nowaczyk, Małgorzata J M

    American journal of medical genetics. Part A

    2010  Volume 152A, Issue 6, Page(s) 1583–1585

    MeSH term(s) Female ; History, Medieval ; Humans ; Medical Illustration ; Neural Tube Defects/history
    Language English
    Publishing date 2010-05-26
    Publishing country United States
    Document type Historical Article ; Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.33399
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  10. Article ; Online: Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction.

    Nowaczyk, Małgorzata J M / Cunniff, Christopher

    American journal of medical genetics. Part C, Seminars in medical genetics

    2012  Volume 160C, Issue 4, Page(s) 239–241

    Abstract: This issue of Seminars of Medical Genetics features a series of articles on Smith-Lemli-Opitz syndrome and other disorders of endogenous cholesterol synthesis. Clinically, many of these disorders have been known for decades, but only in the last 20 years ...

    Abstract This issue of Seminars of Medical Genetics features a series of articles on Smith-Lemli-Opitz syndrome and other disorders of endogenous cholesterol synthesis. Clinically, many of these disorders have been known for decades, but only in the last 20 years have the molecular genetic and enzymatic defects underlying these disorders been delineated. As a group, disorders of cholesterol synthesis are relatively common and contribute significantly to the burden of human disease. Leading experts in their fields present clinical, behavioral, molecular, and therapeutic aspects of these disorders.
    MeSH term(s) Cholesterol/metabolism ; Humans ; Smith-Lemli-Opitz Syndrome/genetics ; Smith-Lemli-Opitz Syndrome/physiopathology ; Smith-Lemli-Opitz Syndrome/therapy
    Chemical Substances Cholesterol (97C5T2UQ7J)
    Language English
    Publishing date 2012-11-15
    Publishing country United States
    Document type Introductory Journal Article
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.31344
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    Zs.A 1376/C: Show issues Location:
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