European Journal of Medical Genetics

Công bố khoa học tiêu biểu

* Dữ liệu chỉ mang tính chất tham khảo

Sắp xếp:  
IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association
European Journal of Medical Genetics - Tập 63 - Trang 104073 - 2020
Santiago Montolío-Marzo, Jaume Català-Mora, Álvaro Madrid-Aris, Judith Armstrong, Jesús Díaz-Carcajosa, Elisa Carreras
Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets
European Journal of Medical Genetics - Tập 63 - Trang 103771 - 2020
Neslihan Duzkale, Nilnur Eyerci, Berna Oksuzoglu, Taner Teker, Olcay Kandemir
DNA promoter methylation of CCM genes in human cerebral cavernous malformations: Importance of confirming MSP data through sequencing
European Journal of Medical Genetics - Tập 63 - Trang 104090 - 2020
Dino Saban, Joel Larisch, Ann-Christin Nickel, Daniela Pierscianek, Philipp Dammann, Ulrich Sure, Yuan Zhu
Infantile hydrocephalus: A review of epidemiology, classification and causes
European Journal of Medical Genetics - Tập 57 - Trang 359-368 - 2014
Hannah M. Tully, William B. Dobyns
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4
European Journal of Medical Genetics - Tập 56 - Trang 580-583 - 2013
Arnaud Molin, Guillaume Benoist, Corinne Jeanne-Pasquier, Nadia Elkartoufi, Julie Litzer, Matthieu Decamp, Nicolas Gruchy, Marion Durand-Malbruny, Marianne Begorre, Tania Attie-Bitach, Nathalie Leporrier
Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management
European Journal of Medical Genetics - Tập 63 - Trang 103785 - 2020
Lara Menzies, Felice D'Arco, Vijeya Ganesan, Jane A. Hurst
A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis
European Journal of Medical Genetics - Tập 57 - Trang 275-278 - 2014
Hatice Koçak Eker, Süleyman Ersin Ünlü, Fatema Al-Salmi, Andrew H. Crosby
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly
European Journal of Medical Genetics - Tập 59 - Trang 502-506 - 2016
Keiko Shimojima, Satoshi Narai, Masami Togawa, Tomotsune Doumoto, Noriko Sangu, Olivier M. Vanakker, Anne de Paepe, Matthew Edwards, John Whitehall, Sally Brescianini, Florence Petit, Joris Andrieux, Toshiyuki Yamamoto
Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism
European Journal of Medical Genetics - Tập 56 - Trang 383-388 - 2013
Anne Frühmesser, Martin Erdel, Hans-Christoph Duba, Christine Fauth, Albert Amberger, Gerd Utermann, Johannes Zschocke, Dieter Kotzot
A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria
European Journal of Medical Genetics - Tập 61 - Trang 307-311 - 2018
Ruqaiah AlTassan, Dalal Bubshait, Faiqa Imtiaz, Zuhair Rahbeeni
Tổng số: 1,111   
  • 1
  • 2
  • 3
  • 4
  • 5
  • 6
  • 10