Search Results - "Medical genetics

Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report by Wei Guo, Yanguo Zhao, Shuwei Li, Jingqun Wang, Xiang Liu

Connect to this object online.

Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer by Xueke Zhou, Yachao Lu, Guanshan Zhu, Jun Cao, Yunxia Zuo, Jin Li

Connect to this object online.

Correction: Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patient... by Chassaing Augustin, Avan Paul, Germain Dominique P, Bonfils Pierre

Connect to this object online.

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene by Alain Chebly, Sandra Corbani, Joelle Abou Ghoch, Cybel Mehawej, André Megarbane, Eliane Chouery

Connect to this object online.

Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report by Qing Liu, Mengling Liu, Tianshu Liu, Yiyi Yu

Connect to this object online.

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report by Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

Connect to this object online.

Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants by Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen, Qian Chen

Connect to this object online.

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

Connect to this object online.

Young adults' attitudes to sharing whole-genome sequencing information: a university-based survey by Pepita Barnard, Sarah Sharples, Brian J. Thomson, Jonathan M. Garibaldi

Connect to this object online.

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes by Birch Rachael, Clayton-Smith Jill, Ramsden Simon C, Buiting Karin

Connect to this object online.

Correction to: Screening and computational analysis of colorectal associated non-synonymous polymorphism in CTNNB1 gene in Pakistani population by S. Razak, N. Bibi, J. A. Dar, T. Afsar, A. Almajwal, Z. Parveen, S. Jahan

Connect to this object online.

Thyroid Cancer The Road From Genes to Successful Treatment

DOAB: download the publication
DOAB: description of the publication

From rat pathophysiology to genomic medicine: an interview with Howard Jacob

Connect to this object online.

Iran Diabetes Research Roadmap (IDRR) Study; Knowledge Gap in Ge-netic Research on Diabetes Mellitus in Iran: A Review Article by Fatemeh BANDARIAN, Maryam OMIDVAR, Farideh RAZI, Ensieh NASLI-ESFAHANI, Saeedeh SAEEDI, Bagher LARIJANI

Connect to this object online.

Tacrolimus in preventing transplant rejection in Chinese patients – optimizing use by Li CJ, Li L

Connect to this object online.

Erratum to: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family by Vito Guarnieri, Raewyn M. Seaberg, Catherine Kelly, M. Jean Davidson, Simon Raphael, Andrew Y. Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N. Hendy, David E.C. Cole

Connect to this object online.

Correction to: Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report by Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh

Connect to this object online.

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10 by Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadheland, Xue Zhang

Connect to this object online.

Partial Biotinidase Deficiency by J Gordon Millichap

Connect to this object online.

Thyroid cancer in a patient with Lynch syndrome – case report and literature review by Fazekas-Lavu M, Parker A, Spigelman AD, Scott RJ, Epstein RJ, Jensen M, Samaras K

Connect to this object online.