खोज परिणाम - "Consanguinity"

Implications of ACMG guidelines to identify high-risk acute lymphoblastic leukemia patients with hereditary cancer susceptibility syndromes (HCSS) in a highly consanguineous population द्वारा Sara Aslam, Shabana, Mehboob Ahmed

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A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report द्वारा Xia Wu, Wenhong Wang, Yan Liu, Wenyu Chen, Linsheng Zhao

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The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family द्वारा Michaela A. H. Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf, Barbara Vona

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Health beliefs of unmarried adult Saudi individuals toward safe marriage and the role of premarital screening in avoiding consanguinity: a nationwide cross-sectional study द्वारा Reem M. Alwhaibi, Afrah K. Almuwais, Madawi Alotaibi, Hanan M. AlTaleb, Shatha M. Alsamiri, Ruqaiyah Khan

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Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene द्वारा Mehdi Agha Gholizadeh, Mina Mohammadi-Sarband, Fatemeh Fardanesh, Masoud Garshasbi

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A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (<it>CDMP1</it>) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family द्वारा Ansar Muhammad, Ali Ghazanfar, Wasif Naveed, Naqvi Syed, Basit Sulman, Ahmad Wasim

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Association of cleft lip and/or palate in people born to consanguineous parents: A 13-year retrospective study from a very high-volume cleft center द्वारा Praveen Kumar Neela, Srinivas Gosla Reddy, Akhter Husain, Vasavi Mohan

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A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review द्वारा Nahid Rezaie, Nader Mansour Samaei, Ayda Ghorbani, Naghmeh Gholipour, Shohreh Vosough, Mahboobeh Rafigh, Abolfazl Amini

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Autozygosity Mapping by Genome-wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous HR Mutation in a Consanguineous Family with Universal Hereditary Hair Loss द्वारा Sirous Zeinali, Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Soheila Sotoudeh, Hamideh Bagherian, Jouni Uitto

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A novel <it>HSF4 </it>gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan द्वारा Cheema Abdul, Kakar Naseebullah, Goebel Ingrid, Sajjad Naheed, Kubisch Christian, Ahmad Jamil

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A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family द्वारा Amjad Khan, Amjad Khan, Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Mohammad A. Alshabeeb, Muhammad Ansar, Wasim Ahmad, Manal Alaamery, Xue Zhang, Xue Zhang

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Complex Inheritance of Rare Missense Variants in PAK2, TAP2, and PLCL1 Genes in a Consanguineous Arab Family With Multiple Autoimmune Diseases Including Celiac Disease द्वारा Arwa Mastoor Alharthi, Arwa Mastoor Alharthi, Babajan Banaganapalli, Babajan Banaganapalli, Sabah M. Hassan, Sabah M. Hassan, Omran Rashidi, Bandar Ali Al-Shehri, Meshari A. Alaifan, Meshari A. Alaifan, Bakr H. Alhussaini, Bakr H. Alhussaini, Hadeel A. Alsufyani, Kawthar Saad Alghamdi, Khalda Khalid Nasser, Khalda Khalid Nasser, Khalda Khalid Nasser, Yagoub Bin-Taleb, Ramu Elango, Ramu Elango, Noor Ahmad Shaik, Noor Ahmad Shaik, Omar I. Saadah, Omar I. Saadah

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Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring?... द्वारा Cornel Martina C, Kuik Dirk J, Heutink Peter, Bochdanovits Zoltan, Henneman Lidewij, Teeuw Marieke E, ten Kate Leo P

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Síndrome de Usher de tipo II: caracterización oftalmológica, auditiva y genética de una familia consanguínea Type II Usher syndrome: ophthalmological, auditory, and genetic characterization of a consanguineous family द्वारा Rásife Freyre Luque, Sarah María García Espinosa, Idalmis García Mayet, Francisca Santisteban Aguilera, Melek Dager Salomón

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Primary Immunodeficiencies Worldwide

विषय: “…consanguinity…”
DOAB: download the publication
DOAB: description of the publication

Gothic incest Gender, sexuality and transgression द्वारा DiPlacidi, Jenny

विषय: “…Consanguinity…”
DOAB: download the publication
DOAB: description of the publication

Gothic incest Gender, sexuality and transgression द्वारा DiPlacidi, Jenny

विषय: “…Consanguinity…”
OAPEN Library: download the publication
OAPEN Library: description of the publication

First Cousin Marriages and the Risk of Childhood-Onset Vitiligo: Exploring the Genetic Background: A Cross-Sectional Study द्वारा Molla A, Alayoubi AM, Jannadi R

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Risk factors predisposing to congenital heart defects द्वारा Faheem Ul Haq, Fatima Jalil, Saman Hashmi, Maliha Iqbal Jumani, Aamer Imdad, Mehnaz Jabeen, Javad Tauseef Hashmi, Furqan Bin Irfan, Muhammad Imran, Mehnaz Atiq

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Risk indicators for syndromic and nonsyndromic orofacial clefts in Southern Province of Saudi Arabia द्वारा Bandar Alyami, Mutaz Ali-Hassan, Manasaour Al-Mahri, Fahad Alyami, Saeed Alharieth

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