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Genetic Counseling (Geneva, Switzerland)|August 5, 2009
A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type DN H Elçioglu, B Pawlik, B Colak, et al.
European Heart Journal|May 1, 1995
Hormonal induction of an immediate-early gene response in myogenic cell lines--a paradigm for heart growthA Maass, C Grohé, C Kubisch, et al.
FEBS Letters|November 29, 1993
Immediate-early gene induction by repetitive mechanical but not electrical activity in adult rat cardiomyocytesC Kubisch, B Wollnik, A Maass, et al.
Clinical Dysmorphology|July 12, 2001
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 geneS Jakubiczka, T Bettecken, G Koch, et al.
Genetic Counseling (Geneva, Switzerland)|August 11, 2012
A new clinical presentation associated with pontine clefting, hyperpigmentation and short stature in addition to craniofacial, cardiac and developmental anomaliesO Cogulu, B Durmaz, B Wollnik, et al.
Human Molecular Genetics|September 25, 1997
Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmiasB Wollnik, B C Schroeder, C Kubisch, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society|September 25, 2007
A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart diseaseS Pabst, B Wollnik, E Rohmann, et al.
Journal of Molecular and Cellular Cardiology|February 12, 2004
KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarctionA Jeron, C Hengstenberg, S Holmer, et al.
Clinical Genetics|June 7, 2003
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing lossO Uyguner, M Emiroglu, A Uzumcu, et al.
Balkan Journal of Medical Genetics : BJMG|November 15, 2018
Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the LiteratureM Budisteanu, N Bögershausen, S M Papuc, et al.
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