Suchergebnisse - "Kantarci, Sibel"

1

Congenital Heart Defects in Neonates: Determining the Incidence of Genetic Testing and Follow-up Consultation at UCLA

von: Kantarci, Sibel

2015, in: 0488: Assessment of aortic regurgitation severity: a cardiac magnetic resonance and echocardiographic comparison study

Wird geladen...
2

A Novel 1p35.1p34.3 Microdeletion in a Baby Boy with Multiple Congenital Anomalies and Developmental Delay

von: Kantarci, Sibel

2014, in: 0488: Assessment of aortic regurgitation severity: a cardiac magnetic resonance and echocardiographic comparison study

Wird geladen...
3

53. Multidimensional cytogenetics workup on a rare chromosomal aberration

von: Mulatinho, Milene

2018, in: 0488: Assessment of aortic regurgitation severity: a cardiac magnetic resonance and echocardiographic comparison study

Wird geladen...
4

Atypical rearrangement involving 3′-IGHand a breakpoint at least 400 Kb upstream of an intact MYC in a CLL patient with an apparently balanced t(8;14)(q24.1;q32) and negative MYC expression

von: Amarillo, Ina

2013, in: Molecular cytogenetics

Wird geladen...
5

A web-based educational program to support the updated ACMG/ ClinGen technical standards for constitutional copy number variant classification

von: Riggs, Erin

2021, in: Measles transmission during a large outbreak in California

Wird geladen...
6

28. Standards for the classification and reporting of constitutional copy number variants: A ClinGen/ACMG joint consensus recommendation

von: Riggs, Erin

2019, in: 0488: Assessment of aortic regurgitation severity: a cardiac magnetic resonance and echocardiographic comparison study

Wird geladen...
7

Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia

von: Chun, Kathy

2018, in: 0488: Assessment of aortic regurgitation severity: a cardiac magnetic resonance and echocardiographic comparison study

Wird geladen...
8

Mutations in "gene"> LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

von: Kantarci, Sibel

2007, in: Nature genetics

Wird geladen...

Nicht das Richtige dabei?

Schreiben Sie uns!