Auckland einfallen Bewältigung clark baraitser syndrome Umwandlung Katastrophal Gesellig
Splitting versus lumping': Temple–Baraitser and Zimmermann–Laband Syndromes | SpringerLink
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies | European Journal of Human Genetics
PDF) Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12
Clark-Baraitser-Syndrom
IJMS | Free Full-Text | Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes. - Abstract - Europe PMC
Temple–Baraitser syndrome: A rare and possibly unrecognized condition - Jacquinet - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? | springermedizin.de
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? | springermedizin.de
Genes | Free Full-Text | Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and D
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. - Abstract - Europe PMC
The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up - Ejaz - 2016 - Clinical Case Reports - Wiley Online Library
Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations - Donoghue - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Temple–Baraitser syndrome: A rare and possibly unrecognized condition - Jacquinet - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
IJMS | Free Full-Text | Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
Clinical photographs of study participants. (A). Case 4: facial... | Download Scientific Diagram
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing
A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome) - Gabbett - 2008 - American Journal of Medical Genetics Part A - Wiley Online Library
IJMS | Free Full-Text | Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
Nicolaides–Baraitser syndrome - Wikipedia
Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes. - Abstract - Europe PMC
Nicolaides–Baraitser syndrome: Delineation of the phenotype - Sousa - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library