BMC Medical Genetics | Home page

BMC Medical Genetics | Home page

BMC Medical Genetics

Articles

• Recent
• Most accessed

1. Content Type:Technical Advance

     |  19 July 2019

   A multivariable approach for risk markers from pooled molecular data with only partial overlap

   Authors:Anne-Sophie Stelzer, Livia Maccioni, Aslihan Gerhold-Ay, Karin E. Smedby, Martin Schumacher, Alexandra Nieters and Harald Binder
2. Content Type:Case Report

     |  17 July 2019

   A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

   Authors:Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas and Eglė Preikšaitienė
3. Content Type:Case Report

     |  16 July 2019

   New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report

   Authors:Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada and Gen Nishimura
4. Content Type:Research Article

     |  15 July 2019

   Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency

   Authors:Friedrich Kueppers, Mark D. Andrake, Qifang Xu, Roland L. Dunbrack Jr, Joannah Kim and Christopher L. Sanders
5. Content Type:Case Report

     |  12 July 2019

   Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report

   Authors:Guo-min Li, Hai-mei Liu, Wan-zhen Guan, Hong Xu, Bing-bing Wu and Li Sun