Search Results - "Consanguinity"

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  1. 381
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    Gaucher Disease Type IIIC, with Oculomotor Apraxia by J Gordon Millichap

    Published 2000
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  2. 382
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    GM1 Gangliosidosis Type 1 and Mongolian Spots by J Gordon Millichap

    Published 2013
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  3. 383
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    Axonal Neuropathy with Neuromyotonia by J Gordon Millichap, John J Millichap

    Published 2014
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  4. 384
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    Multi-Minicore and Central Core Disease by J Gordon Millichap

    Published 2002
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  5. 385
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    Arthrogryposis Congenita and Hepatorenal Abnormalities by J Gordon Millichap

    Published 1990
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  6. 386
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    Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsi... by Zahra Nouri, Akram Sarmadi, Sina Narrei, Hamidreza Kianersi, Farzan Kianersi, Mohammad Amin Tabatabaiefar

    Published 2024
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  7. 387
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    An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3 by Bouhouche Ahmed, Benomar Ali, Errguig Leila, Lachhab Lamiae, Bouslam Naima, Aasfara Jehanne, Sefiani Sanaa, Chabraoui Layachi, El Fahime Elmostafa, El Quessar Abdeljalil, Jiddane Mohamed, Yahyaoui Mohamed

    Published 2012
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  8. 388
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    ML Flow serological test: complementary tool in leprosy by Janaína Olher Martins Montanha, Susilene Maria Tonelli Nardi, Fernanda Modesto Tolentino Binhardi, Heloisa da Silveira Paro Pedro, Milena Polotto de Santi, Vânia Del Arco Paschoal

    Published 2023
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  9. 389
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    Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa by Huang Yukan, Zhang Jing, Li Chang, Yang Guohua, Liu Mugen, Wang Qing K, Tang Zhaohui

    Published 2010
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  10. 390
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    Incidence of phenylketonuria and the effect of prevention national program on reducing its incidence in the population covered by Kerman University of Medical Sciences during 2007-... by Salman Daneshi, Fatemeh Mohseni Takaloo, Maryam Rezabeigi Davarani, Batool Heidarabadi, Esmat Rezabeigi Davarani

    Published 2022
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  11. 391
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    Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis by Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, Khalid Hussain

    Published 2021
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  12. 392
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    Impact of cleft lip and palate before and after treatment in a low-income population by Anthony Markus, Srinivas Gosla Reddy, Rajgopal R Reddy, Monal Karkar

    Published 2021
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  13. 393
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    A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family by Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, Hina Bashir, Niamat Khan, Noor Muhammad, Rüstem Yilmaz, Saadullah Khan, Naveed Wasif

    Published 2020
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  14. 394
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    Dopamine-Serotonin Transporter Disease by J Gordon Millichap

    Published 2013
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  15. 395
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    Homozygous Hypercholesterolaemia With Cutaneous And Tendinous Xanthoma In A Child by Lahiri Bhabesh Chandra, Lahiri Koushil

    Published 2000
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  16. 396
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    Giant Axonal Neuropathy with CNS Involvement by J Gordon Millichap

    Published 2005
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  17. 397
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    Monilethrix : Report Of A Family by Bhalla Mala, Thami Gurvinder P, Kanwar Amrinder J, Kaur Sukhjot

    Published 2001
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  18. 398
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    Acrocallosal Syndrome (Schinzel Syndrome) by J Gordon Millichap

    Published 1988
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  19. 399
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    Familial Infantile Bilateral Striatal Necrosis by J Gordon Millichap

    Published 2002
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  20. 400
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    Congenital Myasthenic Syndrome and AChR Mutation by J Gordon Millichap

    Published 2000
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