UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 61

Sortiert nach

Genetic Basis of Intellectual Disability

Annual review of medicine, 2013-01, Vol.64 (1), p.441-450

2013

Link zum Volltext

Verfügbarkeit prüfen

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

Prenatal diagnosis, 2012-10, Vol.32 (10), p.986-995

2012

Link zum Volltext

Verfügbarkeit prüfen

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Genetics in medicine, 2007-09, Vol.9 (9), p.607-616

2007

Link zum Volltext

Verfügbarkeit prüfen

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Proceedings of the National Academy of Sciences - PNAS, 2013-09, Vol.110 (37), p.14990-14994

2013

Link zum Volltext

Verfügbarkeit prüfen

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.62-69

2014

Link zum Volltext

Verfügbarkeit prüfen

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

Prenatal diagnosis, 2012-10, Vol.32 (10), p.976-985

2012

Link zum Volltext

Verfügbarkeit prüfen

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD

European journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.79-88

2008

Link zum Volltext

Verfügbarkeit prüfen

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2018-12, Vol.177 (8), p.736-745

2018

Link zum Volltext

Verfügbarkeit prüfen

Evidence of Genetic Locus Heterogeneity for Familial Bicuspid Aortic Valve

The Journal of surgical research, 2007-09, Vol.142 (1), p.28-31

2007

Link zum Volltext

Verfügbarkeit prüfen

Investigation of NRXN1 deletions: Clinical and molecular characterization

American journal of medical genetics. Part A, 2013-04, Vol.161A (4), p.717-731

2013

Link zum Volltext

Verfügbarkeit prüfen

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1615-1626

2015

Link zum Volltext

Verfügbarkeit prüfen

Clinical utility of chromosomal microarray analysis

Pediatrics (Evanston), 2012-11, Vol.130 (5), p.e1085

2012

Link zum Volltext

Verfügbarkeit prüfen

Retinal mosaicism in a girl with an X–Y translocation

British journal of ophthalmology, 2013-02, Vol.97 (2), p.243-243

2013

Link zum Volltext

Verfügbarkeit prüfen

Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome

American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.1016-1019

2010

Link zum Volltext

Verfügbarkeit prüfen

Experience Using a Rapid Assay for Aneuploidy and Microdeletion/Microduplication Detection in over 2,900 Prenatal Specimens

Fetal diagnosis and therapy, 2014-01, Vol.36 (3), p.231-241

2014

Link zum Volltext

Verfügbarkeit prüfen

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome

American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.259-263

2014

Link zum Volltext

Verfügbarkeit prüfen

Response to the letter by Collins and Schimke

Genetics in medicine, 2011-11, Vol.13 (11), p.982-983

2011

Link zum Volltext

Verfügbarkeit prüfen

710: A targeted approach for the prenatal detection of common aneuploidies and 15 microdeletion syndromes

American journal of obstetrics and gynecology, 2012, Vol.206 (1), p.S315-S316

2012

Link zum Volltext

Verfügbarkeit prüfen

Experience With Microarray-Based Comparative Genomic Hybridization for Prenatal Diagnosis in Over 5000 Pregnancies

Obstetrical & gynecological survey, 2013-02, Vol.68 (2), p.93-95

2013

Link zum Volltext

Verfügbarkeit prüfen

A Novel NDP Mutation in an Infant with Unilateral Persistent Fetal Vasculature and Retinal Vasculopathy

Ophthalmic genetics, 2009-01, Vol.30 (2), p.99-102

2009

Link zum Volltext

Verfügbarkeit prüfen

Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

Journal of medical genetics, 2007-01, Vol.44 (1), p.e59-e59

2007

Link zum Volltext

Verfügbarkeit prüfen

Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems

American journal of medical genetics. Part A, 2007-04, Vol.143A (7), p.746-751

2007

Link zum Volltext

Verfügbarkeit prüfen

Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies

American journal of medical genetics. Part A, 2005-04, Vol.134A (2), p.202-206

2005

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 61

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(55)
Mit Volltextzugriff
(57)

Publikationsform

Sprache

Englisch
(61)
Japanisch
(12)

Erscheinungsjahr

n.n

Thema

Science & Technology
(42)
Life Sciences & Biomedicine
(39)
Humans
(38)
Female
(26)
Male
(25)
Genetics & Heredity
(21)
Child
(17)
Biological And Medical Sciences
(16)
Medical Sciences
(11)
Adult
(10)
Animals
(10)
Child, Preschool
(10)
Infant
(10)
Adolescent
(9)
Chromosome Deletion
(9)
Fundamental And Applied Biological Sciences. Psychology
(9)
Base Sequence
(8)
Genes
(8)
Comparative Genomic Hybridization
(7)
Abnormalities, Multiple - Genetics
(6)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Genetic Basis of Intellectual Disability

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

Evidence of Genetic Locus Heterogeneity for Familial Bicuspid Aortic Valve

Investigation of NRXN1 deletions: Clinical and molecular characterization

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Clinical utility of chromosomal microarray analysis

Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

Retinal mosaicism in a girl with an X–Y translocation

Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome

Experience Using a Rapid Assay for Aneuploidy and Microdeletion/Microduplication Detection in over 2,900 Prenatal Specimens

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome

Response to the letter by Collins and Schimke

710: A targeted approach for the prenatal detection of common aneuploidies and 15 microdeletion syndromes

Experience With Microarray-Based Comparative Genomic Hybridization for Prenatal Diagnosis in Over 5000 Pregnancies

A Novel NDP Mutation in an Infant with Unilateral Persistent Fetal Vasculature and Retinal Vasculopathy

Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems

Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies

Suchergebnisse filtern