Search Results - "Consanguinity"

Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency by Van Khanh Tran, Quang Minh Diep, Zilong Qiu, Thi Phuong Le, Long Duy Do, Hai Anh Tran, The-Hung Bui, Thanh Van Ta, Thinh Huy Tran

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A Novel KISS1R Loss-of-function Variant in a Chinese Child with Congenital Hypogonadotropic Hypogonadism by Peng Zhou, Jin Wu

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Bilateral Involvement in Developmental Dislocation of the Hip: Analysis of 561 Patients Operated on Using the Limited Posteromedial Approach by Batuhan Gencer, Özgür Doğan, Ali Biçimoğlu

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Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family by Yanwei Sha, Ding Ma, Ning Zhang, Xiaoli Wei, Wensheng Liu, Xiong Wang

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Newborn Screening for Severe Combined Immunodeficiency in Israel by Erez Rechavi, Atar Lev, Talia Saraf-Levy, Amos Etzioni, Shlomo Almashanu, Raz Somech

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A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family by Akram Sarmadi, Samane Nasrniya, Maryam Soleimani Farsani, Sina Narrei, Zahra Nouri, Mahsa Sepehrnejad, Mohammad Hussein Nilforoush, Hamidreza Abtahi, Mohammad Amin Tabatabaiefar

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Early detection and risk factors of congenital hip dislocation in Morocco by Adri Ilham, Touloun Oulaid, Boussaa Samia

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Chapter 4 From the land The foundation of rural China by Zhao, Wei

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Les monarchies espagnole et française au temps de leur affrontement : Milieu XVIe siècle - 1714. Synthèse et documents by Jean-Paul Le Flem

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Aumento acentuado da leucina como fator de mau prognóstico na doença da urina de xarope de bordo - relato de caso by Bruna Duque de Almeida Braga, Gessianni Claire Alves de Souza, Filipe Marinho Pinheiro da Camara, Ana Cecília Menezes de Siqueira, Lucas Victor Alves

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Síndrome cérebro-pulmão-tireoide: tratamento e prognóstico com o uso de cloridrato de metilfenidato by Barbara Bianchi, Camila Diniz Gil, Laura Vagnini, Jacqueline Harouche Rodrigues Fonseca

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Aplastic anemia with thrombopoietin gene mutation successfully treated with romiplostim monotherapy by Niranjan Gurunath Hegde, Deenadayalan Munirathnam, Meena Sivasankaran, Ravikumar Thangadorai

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Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran by Samira ASGHARZADE, Somayeh REIISI, Mohammad Amin TABATABAIEFAR, Morteza HASHEMZADEH CHALESHTORI

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Hereditary acrodermatitis enteropathica: A case report by LI Jibing, CHEN Guanghua, JIANG Jinqiu, LI Hongmei, QIAN Hua, LUO Xiaoyan

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Rare cause of neonatal apnea from congenital central hypoventilation syndrome by Prakarn Tovichien, Krittin Rattananont, Narathorn Kulthamrongsri, Mongkol Chanvanichtrakool, Buranee Yangthara

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Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report by Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian, Wen-Xiong Chen

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Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF by Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer, Marc Bassim

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Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report by Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami

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Novel missense mutation in the <it>RSPO4</it> gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I) by Khan Tahir, Klar Joakim, Nawaz Sadia, Jameel Muhammad, Tariq Muhammad, Malik Naveed, Baig Shahid M, Dahl Niklas

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A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case by Tohid Ghasemnejad, Mahmoud Shekari Khaniani, Jafar Nouri Nojadeh, Sima Mansoori Derakhshan

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