Výsledky vyhledávání - Christine Zeschnigk
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1
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish Autor Deborah Morris‐Rosendahl, Reeval Segel, A.P. Born, Christoph Conrad, Bart Loeys, Susan Sklower Brooks, Laura S. M. Müller, Christine Zeschnigk, Christina Botti, Ron Rabinowitz, Gökhan Uyanık, Marc‐Antoine Crocq, Uwe Kraus, Ingrid Degen, Fran Faes
Vydáno 2010Artigo -
2
Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability Autor Izak Johannes Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, M.W. Wessels, P J Willems, Peter Bjødstrup Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt‐Robinson, Maja Linné, Patricia Martín, James McGrath, Winnie Pradel, Katrina Prescott, Bernd Roesler, Goražd Rudolf, Ulrike Siebers‐Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, G. Wolff, William B. Dobyns, Deborah Morris‐Rosendahl
Vydáno 2012Artigo
Vyhledávací nástroje:
Související témata
Anatomy
Biology
Corpus callosum
Gene
Genetics
Hypoplasia
Medicine
Pathology
Phenotype
Agenesis of the corpus callosum
Allele
Atrophy
Bioinformatics
Cerebellar hypoplasia (non-human)
Cerebellum
Ciliopathy
Environmental health
Epilepsy
Founder effect
Global developmental delay
Haplotype
Joubert syndrome
Microcephaly
Microphthalmia
Mutation
Neuroscience
Pediatrics
Polymicrogyria
Population
Psychiatry