European Journal of Medical Genetics

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Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1
European Journal of Medical Genetics - Tập 59 - Trang 549-553 - 2016
Bernt Popp, Regina Trollmann, Christian Büttner, Almuth Caliebe, Christian T. Thiel, Ulrike Hüffmeier, André Reis, Christiane Zweier
Genetic essentialism: The mediating role of essentialist biases on the relationship between genetic knowledge and the interpretations of genetic information
European Journal of Medical Genetics - Tập 64 - Trang 104119 - 2021
Ilan Dar-Nimrod, Ruth Kuntzman, Georgia MacNevin, Kate Lynch, Marlon Woods, James Morandini
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature
European Journal of Medical Genetics - Tập 58 - Trang 293-299 - 2015
Ola Khalifa, Zahra Al-Sahlawi, Faiqa Imtiaz, Khushnooda Ramzan, Rabab Allam, Abeer Al-Mostafa, Maaly Abdel-Fattah, Gheid Abuharb, Michael Nester, Alain Verloes, Hamad Al-Zaidan
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1
European Journal of Medical Genetics - Tập 62 - Trang 243-247 - 2019
Schaida Schirwani, Antonio Novelli, Maria Cristina Digilio, David Bourn, Valerie Wilson, Catherine Roberts, Bruno Dallapiccola, Emma Hobson
Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion
European Journal of Medical Genetics - Tập 56 - Trang 521-525 - 2013
Scott E. Hickey, Sawona Biswas, Devon Lamb Thrush, Robert E. Pyatt, Julie M. Gastier-Foster, Caroline Astbury, Joan Atkin
Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?
European Journal of Medical Genetics - Tập 65 - Trang 104519 - 2022
Esra Yıldız Bölükbaşı, Justyna A. Karolak, Tomasz Gambin, Przemyslaw Szafranski, Gail H. Deutsch, Paweł Stankiewicz
Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests
European Journal of Medical Genetics - Tập 62 - Trang 103533 - 2019
Taisuke Sato, Osamu Samura, Tomona Matsuoka, Masaki Yoshida, Hiroaki Aoki, Ohsuke Migita, Aikou Okamoto, Kenichiro Hata
Patient with Dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature
European Journal of Medical Genetics - Tập 56 - Trang 202-206 - 2013
Olga Žilina, Tiia Reimand, Pille Tammur, Vallo Tillmann, Ants Kurg, Katrin Õunap
Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases
European Journal of Medical Genetics - Tập 56 - Trang 648-654 - 2013
Elisa Merello, Patrizia De Marco, Marcello Ravegnani, Giovanna Riccipetitoni, Armando Cama, Valeria Capra
The etiology of congenital diaphragmatic hernia: Still largely unknown?
European Journal of Medical Genetics - Tập 52 - Trang 281-286 - 2009
M. Klaassens, A. de Klein, D. Tibboel
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