Search Results - "genetic counseling"

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  1. 921
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    Genetiese bevindings in 'n groep Afrikaners met skisofrenie by Roos, Johannes

    Published 2019
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  2. 922
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    Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping by McNeill, Alisdair

    Published 2019
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  3. 923
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    Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1 by Peiwei Chai, Yingxiu Luo, Chuandi Zhou, Yefei Wang, Xianqun Fan, Renbing Jia

    Published 2019
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  4. 924
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    Prenatal diagnosis of de novo isochromosome 4p with an unbalanced t(4;9) translocation in a fetus with congenital anomalies: A case report and literature review by Yan-Yi Yao, Cheng-Cheng Zhang, Hao Bi, Feng Zhu

    Published 2022
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  5. 925
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    Pedigree analysis of idiopathic epilepsy in children of South Kerala by A Amar Jayanthi

    Published 2012
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  6. 926
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    Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy by Nardone Anna, Russo Silvia, Bengala Mario, Gambardella Stefano, D'Apice Maria, Lucidi Vincenzina, Sangiuolo Federica, Novelli Giuseppe

    Published 2004
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  7. 927
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    Jacobsen syndrome and neonatal bleeding: report on two unrelated patients by Gregorio Serra, Luigi Memo, Vincenzo Antona, Giovanni Corsello, Valentina Favero, Paola Lago, Mario Giuffrè

    Published 2021
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  8. 928
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    Evaluation of pre-test counselling offered for non-invasive prenatal testing (NIPT) as a primary screening tool by Ho Yin Diana Lee, Lin Wai Chan

    Published 2023
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  9. 929
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    Knowledge and Challenges Associated With Hearing Impairment in Affected Individuals From Cameroon (Sub-Saharan Africa) by Edmond Wonkam-Tingang, Karen Kengne Kamga, Samuel Mawuli Adadey, Samuel Mawuli Adadey, Seraphin Nguefack, Carmen De Kock, Nchangwi Syntia Munung, Ambroise Wonkam

    Published 2021
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  10. 930
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    Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature by Chiara Maddaloni, Sara Ronci, Domenico Umberto De Rose, Iliana Bersani, Francesca Campi, Matteo Di Nardo, Francesca Stoppa, Rachele Adorisio, Antonio Amodeo, Alessandra Toscano, Maria Cristina Digilio, Antonio Novelli, Giovanni Chello, Annabella Braguglia, Andrea Dotta, Flaminia Calzolari

    Published 2024
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  11. 931
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    First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate by Yao Wang, Dong Yu, Wei Wei, Hao Zheng, Ming-Hua Liu, Long Ma, Li-Na Qin, Neng-Zhuang Wang, Jia-Xi Li, Jin-Jiang Wang, Xin-Ling Bi, Hong-Li Yan

    Published 2022
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  12. 932
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    DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years by Xingjian Zhong, Siying Cui, Lina Liu, Yuxia Yang, Xiangdong Kong

    Published 2021
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  13. 933
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    Functional characterisation of the TSC1-TSC2 complex to assess multiple <it>TSC2 </it>variants identified in single families affected by tuberous sclerosis complex by Dommering Charlotte, Baars Marieke, Maat-Kievit Anneke, Wessels Marja, Adriaans Alwin, Goedbloed Miriam, Sancak Őzgür, Nellist Mark, van den Ouweland Ans, Halley Dicky

    Published 2008
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  14. 934
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    Birth stories of South African mothers of children with albinism: A critical human rights analysis by Sheryl Reimer-Kirkham, Barbara Astle, Jennifer Kromberg, Innocentia Mgijima-Konopi, Ramadimetja Shirley Mooa, Maretha de Waal, Meghann Buyco, Ikponwosa Ero, Dianah Msipa, Tintswalo Victoria Nesengani, Nomasonto Mazibuko, Ronell Leech, Mpho Tjope

    Published 2024
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  15. 935
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    Burden of thalassemia in India: The road map for control by Roshan Colah, Khushnooma Italia, Ajit Gorakshakar

    Published 2017
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  16. 936
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    Novel MSX1 variants identified in families with nonsyndromic oligodontia by Jinglei Zheng, Miao Yu, Haochen Liu, Tao Cai, Hailan Feng, Yang Liu, Dong Han

    Published 2021
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  17. 937
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    Case report: marfan syndrome (MFS) mimicking cutaneous vasculitis by Fiona Price-Kuehne, Ebun Omoyinmi, Maha Younes, Matthew Edwards, Despina Eleftheriou, Despina Eleftheriou, Paul Brogan, Paul Brogan

    Published 2023
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  18. 938
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    A case of Myhre syndrome mimicking juvenile scleroderma by Barbara Jensen, Rebecca James, Ying Hong, Ebun Omoyinmi, Clarissa Pilkington, Neil J. Sebire, Kevin J. Howell, Paul A. Brogan, Despina Eleftheriou

    Published 2020
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  19. 939
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    Empirical Validation of the Genetic Psychosocial Risk Instrument - French Version (GPRI-F) by Christine Maheu, Mary Jane Esplen, Xin Gao, Irakli Dzneladze, Hao Bai, François Eisinger, Claire Julian-Reynier

    Published 2018
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  20. 940
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    Patient with Martin-Bell syndrome and premenstrual syndrome, tendency for obesity from puberty by Grażyna Jarząbek-Bielecka, Małgorzata Mizgier, Katarzyna Plagens-Rotman, Piotr Merks, Katarzyna Wróblewska-Seniuk, Witold Kędzia, Magdalena Pisarska-Krawczyk

    Published 2022
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