Search Results - "genetic counseling"

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  1. 881
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    Bioethics in Genetics: between science and art by Ana Rita Soares, Ana Sofia Carvalho

    Published 2023
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  2. 882
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    A Sporadic Family of Lipoid Proteinosis with Novel ECM1 Gene Mutations by Liu YL, Zhang ZYO, Chen XM

    Published 2024
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  3. 883
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    Finding of Polydactyly and Syndactyly in an Eight-week Human Embryo. A Case Report by Maria Nelia Martínez Lima, María Aimée Vila Bormey, Yanely Surí Santos

    Published 2014
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  4. 884
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    Costello Syndrome. A case report by Yadelis Maldonado Martínez, Alexander Torres Molina, Diorgis Duran Lobaina

    Published 2014
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  5. 885
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    Crouzon syndrome: Genetic and intervention review by N.M. Al-Namnam, F. Hariri, M.K. Thong, Z.A. Rahman

    Published 2019
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  6. 886
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    Die Ontwikkeling Van Genetiese Dienste Van Die Departement Van Gesondheid - 1978 by J. Hof

    Published 1979
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  7. 887
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    Finding of Polydactyly and Syndactyly in an Eight-week Human Embryo. A Case Report by Maria Nelia Martínez Lima, María Aimée Vila Bormey, Yanely Surí Santos

    Published 2014
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  8. 888
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    X‐linked ichthyosis: New insights into a multi‐system disorder by Georgina H. Wren, William Davies

    Published 2022
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  9. 889
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    Antenatal screening and the gendering of genetic responsibility by Reed Kate

    Published 2007
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  10. 890
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    Antenatal ultrasound findings in choanal atresia: A case report and review of the literature by Inshirah Sgayer, Lior Lowenstein, Marwan Odeh

    Published 2024
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  11. 891
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    The role of cutaneous manifestations in the diagnosis of the Ehlers‐Danlos syndromes by Natasha Stembridge, Brent J. Doolan, Mark E. Lavallee, Ingrid Hausser, F. Michael Pope, Suranjith L. Seneviratne, Ingrid M. Winship, Nigel P. Burrows

    Published 2023
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  12. 892
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    Fetal Skeletal Lethal Dysplasia: Case Report Displasia Esquelética Letal Fetal: Relato de Caso by Alexandre Mello Savoldi, Maria Auxiliadora Monteiro Villar, Heloisa Novaes Machado, Juan C. Llerena Júnior

    Published 2017
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  13. 893
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    Costello Syndrome. A case report by Yadelis Maldonado Martínez, Alexander Torres Molina, Diorgis Duran Lobaina

    Published 2014
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  14. 894
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    Molecular mechanism in a rare autosomal recessive case of xeroderma pigmentosum - a case report by Vijaya Ramanathan, Anand Ramanathan

    Published 2014
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  15. 895
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    Progressive Pseudorheumatoid Condrodysplasia, an Unusual Cause of Joint Swelling and Stiffness by Esra Kılıç

    Published 2018
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  16. 896
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    Recent Advances in Diagnostic and Surveillance Strategies for Childhood Cancer Predisposition Syndromes by Jae Won Yoo

    Published 2023
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  17. 897
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    Spondylocostal dysostosis 1 - case report and literature review by Elżbieta Drachal, Paweł Zapolnik, Łukasz Dembiński, Michał Zgurski, Antoni Pyrkosz

    Published 2023
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  18. 898
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    Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations by Yue T. K. Yuen, Ilaria Guella, Elke Roland, Michael Sargent, Cyrus Boelman

    Published 2019
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  19. 899
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    A Novel Missense Variant c.125G>A on Exon 3- Presenting as Neonatal Purpura Fulminans with Persisting Fetal Vasculature by Ajeesh Babu, Riaz I, Sankar Hariharan

    Published 2023
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  20. 900
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    Familial presentation-best vitelliform disease by C Charanya, A M Raja, Janti Siddharam, Adnan Matheen

    Published 2014
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