Home

Auckland einfallen Bewältigung clark baraitser syndrome Umwandlung Katastrophal Gesellig

Splitting versus lumping': Temple–Baraitser and Zimmermann–Laband Syndromes  | SpringerLink
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
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
PDF) Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12

Clark-Baraitser-Syndrom
Clark-Baraitser-Syndrom

IJMS | Free Full-Text | Episignature Mapping of TRIP12 Provides Functional  Insight into Clark–Baraitser Syndrome
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
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: 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

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
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
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
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
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
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

Clark-Baraitser Syndrome disease: Malacards - Research Articles, Drugs,  Genes, Clinical Trials
Clark-Baraitser Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Temple–Baraitser syndrome: A rare and possibly unrecognized condition -  Jacquinet - 2010 - 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
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
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 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
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
IJMS | Free Full-Text | Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

Nicolaides–Baraitser syndrome - Wikipedia
Nicolaides–Baraitser syndrome - Wikipedia

Two cases of Temple-Baraitser syndrome: natural history and further  delineation of the clinical and radiologic phenotypes. - Abstract - Europe  PMC
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
Nicolaides–Baraitser syndrome: Delineation of the phenotype - Sousa - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library

Temple-Baraitser Syndrome disease: Malacards - Research Articles, Drugs,  Genes, Clinical Trials
Temple-Baraitser Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser  syndrome and epilepsy | Nature Genetics
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy | Nature Genetics