Search Results - "Clinical Genetics"

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  1. 21
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    Restricted Growth Clinical, Genetic and Molecular Aspects

    Published 2016
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  2. 22
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    RETINOSIS PIGMENTARIA: CLÍNICA, GENÉTICA Y EPIDEMIOLOGÍA EN ESTUDIO DE FAMILIAS HABANERAS The clinical, genetical and epidemiological characteristics of Retinitis Pigmentosa in families of Havana City by Raisa Hernández Baguer, Mirta Copello Noblet, Beatriz Dyce Gordon, Moraima Rodríguez Alba, Angel Arce Alvarez, Georgina Saint- Blancard Morgado, Fructuoso Suárez Herrera, Julián Pastor Pérez Lara

    Published 2008
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  3. 23
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    "This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services by Philippa Dalach, Ravi Savarirayan, Gareth Baynam, Julie McGaughran, Emma Kowal, Libby Massey, Misty Jenkins, Yin Paradies, Margaret Kelaher

    Published 2021
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  4. 24
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    Retinoblastoma An Update on Clinical, Genetic Counseling, Epidemiology and Molecular Tumor Biology

    Published 2012
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  5. 25
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    <it>WTX</it> R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features by Zicari Anna, Tarani Luigi, Perotti Daniela, Papetti Laura, Nicita Francesco, Liberati Natascia, Spalice Alberto, Salvatori Guglielmo, Guaraldi Federica, Duse Marzia

    Published 2012
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  6. 26
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    Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia / Klinične, Genetske nn Imunološke Značilnosti Otrok In Mladostnikov Z Avtoimunskim Poliglandularnim Sindromom Tipa 1 V Sloveniji by Bratanic Nina, Kisand Kai, Avbelj Stefanija Magdalena, Battelino Tadej, Trebusak Podkrajsek Katarina

    Published 2015
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  7. 27
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    Atenção aos defeitos congênitos no Brasil: características do atendimento e propostas para formulação de políticas públicas em genética clínica Birth defects in Brazil and health care: proposals for public policies in clinical genetics by Dafne Dain Gandelman Horovitz, Maria Helena Cabral de Almeida Cardoso, Juan Clinton Llerena Jr, Ruben Araújo de Mattos

    Published 2006
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  8. 28
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    Genomics and Models of Nerve Sheath Tumors

    Published 2020
    Subjects: “…clinical genetics…”
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  9. 29
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    Genetic Testing for Rare Diseases

    Published 2022
    Subjects: “…clinical genetics…”
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  10. 30
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    Genome analysis and knowledge-driven variant interpretation with TGex by Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen, Qiang Zhang, Yiping Shen, Marilyn Safran, Doron Lancet, Simon Fishilevich

    Published 2019
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  11. 31
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    Genetic counselling resources in non-english languages: A scoping review by Rhea Beauchesne, Patricia Birch, Alison M. Elliott

    Published 2023
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  12. 32
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    A talented giant: a tribute to the memory of John M. Opitz by Lorenzo Pavone, Giovanni Corsello, Martino Ruggieri

    Published 2024
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  13. 33
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    Skeletal Diseases of Genetic Cause: Experience in a National Reference Service by Estela Morales Peralta, Gretell Huertas Pérez

    Published 2021
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  14. 34
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    Additional germline findings from a tumor profiling program by Neda Stjepanovic, Tracy L. Stockley, Philippe L. Bedard, Jeanna M. McCuaig, Melyssa Aronson, Spring Holter, Kara Semotiuk, Natasha B. Leighl, Raymond Jang, Monika K. Krzyzanowska, Amit M. Oza, Abha Gupta, Christine Elser, Lailah Ahmed, Lisa Wang, Suzanne Kamel-Reid, Lillian L. Siu, Raymond H. Kim

    Published 2018
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  15. 35
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    Return of genetic and genomic research findings: experience of a pediatric biorepository by Tanya Papaz, Eriskay Liston, Laura Zahavich, Dimitri J. Stavropoulos, Rebekah K. Jobling, Raymond H. Kim, Miriam Reuter, Anastasia Miron, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F. Smythe, Luis Altamirano-Diaz, Jane Lougheed, Roderick Yao, Oyediran Akinrinade, Jeroen Breckpot, Seema Mital

    Published 2019
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  16. 36
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    Behavior Disorders and Noonan's Syndrome by J Gordon Millichap

    Published 1995
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  17. 37
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    Hypothyroidism and Chromosome 21 Deletion by J Gordon Millichap

    Published 1996
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  18. 38
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    Rett Syndrome by J Gordon Millichap

    Published 1988
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  19. 39
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    AAP Genetics Diagnostic Approach to Intellectual Disability or Global Developmental Delay by J Gordon Millichap, John J Millichap

    Published 2014
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  20. 40
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    The Levels of Pregnancy-Associated Plasma Protein (PAPP-A) and Chorionic Gonadotropin (&beta;-hCG) in the Blood Serum of Women with Hypothyroidism in the 1st Trimester of Pregnancy by Pasińska M, Balcerek E, Repczyńska A, Łazarczyk E

    Published 2023
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