Entwicklung Blatt Reibung clark baraitser syndrome Höhe Medizin Verschreiben
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
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila | Journal of Medical Genetics
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies | European Journal of Human Genetics
Genes | Free Full-Text | Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum
Temple–Baraitser syndrome: A rare and possibly unrecognized condition - Jacquinet - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
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
Nicolaides–Baraitser syndrome - Wikipedia
Temple–Baraitser syndrome - Wikipedia
Clinical photographs of study participants. (A). Case 4: facial... | Download Scientific Diagram
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and D
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
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy | Nature Genetics
JCM | Free Full-Text | Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? | springermedizin.de
Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes. - Abstract - Europe PMC
30 Day Journal & Tracker: Reversing Clark-Baraitser Syndrome: The Raw Vegan Plant-Based Detoxification & Regeneration Journal & Tracker for Healing. Journal 1 : Formation, Health: Amazon.se: Böcker
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant | European Journal of Human Genetics
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
PDF) Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations | European Journal of Human Genetics