Search Results - "Medical Genetics"

Severe congenital microcephaly with AP4M1 mutation, a case report by Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz

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<it>HECTD2</it>, a candidate susceptibility gene for Alzheimer's disease on 10q by Mead Simon, Fox Nick, Rossor Martin, Lloyd Sarah E, Collinge John

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Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability by Mei Daoqi, Chen Guohong, Wang Yuan, Yang Zhixiao, Xu Kaili, Mei Shiyue

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Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss by Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown, Hamish S. Scott

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Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review by Rui Yang, Qingtao Kong, Yuanyuan Duan, Weiwei Li, Hong Sang

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A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report by Jung-Eun Moon, Su-Jeong Lee, Cheol Woo Ko

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DOWN SYNDROME - LONGITUDINAL STUDY OF CLINICAL EVOLUTION AND PSYCHO-SOCIAL IMPLICATIONS by Codruța Diana Petchesi, Gabriela Ciavoi, Florentina Feier, Oana Alexandra Iuhas, Kinga Kozma, Claudia Jurca, Marius Bembea

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Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics by Soo Yeon Kim

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Copy-number variation in <it>BMPR2 </it>is not associated with the pathogenesis of pulmonary arterial hypertension by Cogan Joy D, Vnencak-Jones Cindy L, Johnson Jennifer A, Loyd James E, West James

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Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient by Xiaodong Shi, Xiaolan Huang, Yu Zhang, Xiaodai Cui

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Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G by Mohammad M. Al-Qattan, Ali Hadadi, Abdullah M. Al-Thunayan, Ahmed A. Eldali, Mohammed A. AlBalwi

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Diabetes and congenital malformations. Cienfuegos, 2005-2015 by Oramis Isabel Padrón Aguilera, Maylé Santos Solí, Vivian Rosa Vázquez Martínez, Cristóbal Jorge Torres González, Gladys Bárbara Barberis Pérez

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Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report by Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh, Mohammad Reza Noori-Daloii

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Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency by Gaopin Yuan, Xiaohong Zhang, Tingli Chen, Jiansheng Lin

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Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report by Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh

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A case report of NPHP1 deletion in Chinese twins with nephronophthisis by Feng Chen, Limeng Dai, Jun Zhang, Furong Li, Jinbo Cheng, Jinghong Zhao, Bo Zhang

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Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India by Chaudhary Isha, Jain Manish, Halder Ashutosh, Kabra Madhulika

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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report by Izabella Körberg, Daniel Nowinski, Marie-Louise Bondeson, Malin Melin, Lars Kölby, Eva-Lena Stattin

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Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (<it>PARK2</it>) exon 1-12 dosage by Ivanova-Smolenskaia Irina I, Illarioshkin Sergei N, Bagyeva Gulbahar H, Slominsky Petr A, Semenova Elena V, Shadrina Maria I, Limborska Svetlana A

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Detection of large deletions in the LDL receptor gene with quantitative PCR methods by Larsen Mogens L, Stenderup Anette, Nielsen Gitte G, Jensen Lillian G, Nissen Peter H, Damgaard Dorte, Faergeman Ole

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