Bernd Wollnik

发表

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

E. Valente, J. Seeger, E. Boltshauser, 2023, Orphanet Journal of Rare Diseases.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

S. Banka, K. Girisha, A. Shukla, 2023, Human Genetics.

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

H. Hennies, H. Kayserili, R. Desnick, 2005, Journal of Medical Genetics.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

J. Rosenfeld, Long Guo, J. Clayton-Smith, 2023, American journal of human genetics.

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome

H. G. Brunner, C. Cremers, S. Nabuurs, 2005, Journal of Molecular Medicine.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Asif Javed, Shifeng Xue, H. Kayserili, 2017, Nature Genetics.

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.

B. Wollnik, C. Kubisch, K. Steinmeyer, 1997, Human molecular genetics.

Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

E. Fleck, V. Regitz-Zagrosek, R. Hetzer, 2001, Journal of the American College of Cardiology.

Frequencies of gap‐ and tight‐junction mutations in Turkish families with autosomal‐recessive non‐syndromic hearing loss

B. Wollnik, O. Uyguner, M. Yuksel-Apak, 2003, Clinical genetics.

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

S. Kamaci, E. Uz, T. Ozcelik, 2007, British Journal of Ophthalmology.

N4-hydroxycytidine, the active compound of Molnupiravir, promotes SARS-CoV-2 mutagenesis and escape from a neutralizing nanobody

D. Görlich, Halima Alachram, M. Kschischo, 2023, iScience.

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

X. Estivill, P. Talmud, D. Labuda, 2007, Journal of Medical Genetics.

Immediate‐early gene induction by repetitive mechanical but not electrical activity in adult rat cardiomyocytes

B. Wollnik, L. Neyses, C. Kubisch, 1993, FEBS letters.

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

Björn C. Schroeder, Bernd Wollnik, Thomas J. Jentsch, 1997, Human molecular genetics.

Pathophysiological Mechanisms of Dominant and Recessive Kvlqt1 K + Channel Mutations Found in Inherited Cardiac Arrhythmias

B. Wollnik, H. Esperer, C. Kubisch, 1997 .

Activation and inactivation of homomeric KvLQT1 potassium channels.

F. Conti, B. Wollnik, R. Magrassi, 1998, Biophysical journal.

Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.

Martin Steinegger, M. Ahmadian, L. Gremer, 2024, Cell reports.