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Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2017, Volume 25, Issue 3, pp. 308 - 314
Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is... 
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 09/2016, Volume 170, Issue 9, p. 2248–2260
Patients with Beckwith-Wiedemann syndrome (BWS) have an increased risk to develop cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2017, Volume 25, Issue 3, p. 308
Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is... 
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2015, Volume 167, Issue 6, pp. 1215 - 1222
Journal Article
Nature reviews. Endocrinology, ISSN 1759-5029, 04/2018, Volume 14, Issue 4, p. 229
Journal Article
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 3, pp. 430 - 434
AarskogScott syndrome (ASS) is a rare disorder with characteristic facial, skeletal, and genital abnormalities. Mutations in the FGD1 gene (Xp11.21) are... 
FACIOGENITAL DYSPLASIA | SCOTT-SYNDROME | FGD1 protein | exome sequencing | FGD1 GENE | EXONS | MUTATION | GENETICS & HEREDITY | Aarskog syndrome | LARGE FAMILY | RNA splice sites | EXPRESSION | branch point mutations
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 10/2016, Volume 170, Issue 10, pp. 2681 - 2693
Mutations in CREBBP cause Rubinstein-Taybi syndrome. By using exome sequencing, and by using Sanger in one patient, CREBBP mutations were detected in 11... 
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2016, Volume 170, Issue 9, pp. 2248 - 2260
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2013, Volume 50, Issue 5, pp. 339 - 344
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2017, Volume 25, Issue 3, pp. 308 - 314
Journal Article
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 01/2015, Volume 167, Issue 9, p. 1983
Robin sequence (RS) can be defined as the combination of micrognathia and upper airway obstruction/glossoptosis causing neonatal respiratory problems, with or... 
Journal Article