Helena Böhrer-Rabel

Affiliations
  • Genetikum, Center for Human Genetics, Neu-Ulm, Germany.

Publications (1)

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lucy Loong , Agostina Tardivo , Alexej Knaus , Mona Hashim , Alistair T Pagnamenta , Kerstin Alt , Helena Böhrer-Rabel , Alfonso Caro-Llopis , Trevor Cole , Felix Distelmaier , Patrick Edery , Carlos R Ferreira , Aleksandra Jezela-Stanek , Bronwyn Kerr , Gerhard Kluger , Peter M Krawitz , Marius Kuhn , Johannes R Lemke , Gaetan Lesca , Sally Ann Lynch , Francisco Martinez , Caroline Maxton , Hanna Mierzewska , Sandra Monfort , Joost Nicolai , Carmen Orellana , Deb K Pal , Rafał Płoski , Oliver W Quarrell , Monica Rosello , Małgorzata Rydzanicz , Ataf Sabir , Robert Śmigiel , Alexander P A Stegmann , Helen Stewart , Constance Stumpel , Elżbieta Szczepanik , Andreas Tzschach , Lynne Wolfe , Jenny C Taylor , Yoshiko Murakami , Taroh Kinoshita , Allan Bayat , Usha Kini

Réseau de co-auteurs

Lucy Loong 1 collaboration
Agostina Tardivo 1 collaboration
Alexej Knaus 1 collaboration
Mona Hashim 1 collaboration
Alistair T Pagnamenta 1 collaboration
Kerstin Alt 1 collaboration
Alfonso Caro-Llopis 1 collaboration
Trevor Cole 1 collaboration
Felix Distelmaier 1 collaboration
Patrick Edery 1 collaboration
Carlos R Ferreira 1 collaboration
Aleksandra Jezela-Stanek 1 collaboration
Bronwyn Kerr 1 collaboration
Gerhard Kluger 1 collaboration
Peter M Krawitz 1 collaboration
Marius Kuhn 1 collaboration
Johannes R Lemke 1 collaboration
Gaetan Lesca 1 collaboration
Sally Ann Lynch 1 collaboration
Francisco Martinez 1 collaboration
Caroline Maxton 1 collaboration
Hanna Mierzewska 1 collaboration
Sandra Monfort 1 collaboration
Joost Nicolai 1 collaboration
Carmen Orellana 1 collaboration
Deb K Pal 1 collaboration
Rafał Płoski 1 collaboration
Oliver W Quarrell 1 collaboration
Monica Rosello 1 collaboration
Małgorzata Rydzanicz 1 collaboration
Ataf Sabir 1 collaboration
Robert Śmigiel 1 collaboration
Alexander P A Stegmann 1 collaboration
Helen Stewart 1 collaboration
Constance Stumpel 1 collaboration
Elżbieta Szczepanik 1 collaboration
Andreas Tzschach 1 collaboration
Lynne Wolfe 1 collaboration
Jenny C Taylor 1 collaboration
Yoshiko Murakami 1 collaboration
Taroh Kinoshita 1 collaboration
Allan Bayat 1 collaboration
Usha Kini 1 collaboration