UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Differential brain region‐specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey‐white matter variation

Neuropathology and applied neurobiology, 2020-12, Vol.46 (7), p.735-750

2020

Volltextzugriff (PDF)

Is there a correlation between the proportion of cells with isodicentric Yp at amniocentesis and phenotypic sex?

Prenatal diagnosis, 2010-09, Vol.30 (9), p.839-844

2010

Volltextzugriff (PDF)

Cardiomyopathy in congenital complete lipodystrophy

Clinical genetics, 2002-04, Vol.61 (4), p.283-287

2002

Volltextzugriff (PDF)

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5

Brain (London, England : 1878), 2007-05, Vol.130 (7), p.1929-1941

2007

Volltextzugriff (PDF)

A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome?

American journal of medical genetics. Part A, 2008-07, Vol.146A (14), p.1886-1889

2008

Volltextzugriff (PDF)

Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients

American journal of human genetics, 1996-08, Vol.59 (2), p.417-422

1996

Volltextzugriff (PDF)

Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario

JIMD Reports, Volume 18, 2015, Vol.18, p.69-77

2015

Volltextzugriff (PDF)

Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes

Genetics in medicine, 2001-11, Vol.3 (6), p.416-421

2001

Volltextzugriff (PDF)

Brief report: A case of autism with interstitial deletion of chromosome 13

Journal of autism and developmental disorders, 2001-04, Vol.31 (2), p.231-234

2001

Volltextzugriff (PDF)

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.386-396

2019

Volltextzugriff (PDF)

Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

American journal of human genetics, 2009-02, Vol.84 (2), p.188-196

2009

Volltextzugriff (PDF)

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

Nature genetics, 1995-01, Vol.9 (1), p.92-95

1995

Volltextzugriff (PDF)

Choroideremia associated with an X-autosomal translocation

Human genetics, 1990-04, Vol.84 (5), p.459-464

1990

Volltextzugriff (PDF)

18q-mosaicism associated with Rett syndrome phenotype

American journal of medical genetics, 1993-04, Vol.46 (2), p.142-144

1993

Volltextzugriff (PDF)

Chromosomal Jumping from the DXS165 Locus Allows Molecular Characterization of Four Microdeletions and a de novo Chromosome X/13 Translocation Associated with Choroideremia

Proceedings of the National Academy of Sciences - PNAS, 1989-10, Vol.86 (19), p.7510-7514

1989

Volltextzugriff (PDF)

China and Europe intertwined: a new view of the European sector of the Chang Chun Yuan

Journal of Garden History, 1999-07, Vol.19 (3-4), p.376-393

Siu, Victoria M.

1999

Volltextzugriff (PDF)

A Child With Features of Goldenhar Syndrome and a Novel 1.12 Mb Deletion in 22qll.2 by Cytogenetics and Oligonucleotide Array CGH : Is This a Candidate Region for the Syndrome?

American journal of medical genetics. Part A, 2008, Vol.146 (14), p.1886-1889

2008

Volltextzugriff (PDF)

Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions

BMC medical genetics, 2006-03, Vol.7 (1), p.18-18, Article 18

2006

Volltextzugriff (PDF)

Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3→p23.3 and a rearranged duplication of 8q24.13→qter

American journal of medical genetics, 2001-08, Vol.102 (3), p.266-271

2001

Volltextzugriff (PDF)

Sensitivity of multiple color spectral karyotyping in detecting small interchromosomal rearrangements

Genetic testing, 2000, Vol.4 (1), p.9-14

2000

Volltextzugriff (PDF)

Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome

American journal of medical genetics, 2001-10, Vol.103 (3), p.223-225

2001

Volltextzugriff (PDF)

Direct duplication of 8p21.3→p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features

American journal of medical genetics, 2001-10, Vol.103 (3), p.231-234

2001

Volltextzugriff (PDF)

PARC: ultrafast and accurate clustering of phenotypic data of millions of single cells

Bioinformatics, 2020-05, Vol.36 (9), p.2778-2786

2020

Volltextzugriff (PDF)

Circulating tumor DNA and liquid biopsy in oncology

Nature cancer, 2020-03, Vol.1 (3), p.276-290

2020

Volltextzugriff (PDF)

1 – 25 von 436

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(393)
Mit Volltextzugriff
(370)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Differential brain region‐specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey‐white matter variation

Is there a correlation between the proportion of cells with isodicentric Yp at amniocentesis and phenotypic sex?

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

Cardiomyopathy in congenital complete lipodystrophy

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5

A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome?

Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients

Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario

Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes

Brief report: A case of autism with interstitial deletion of chromosome 13

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

Choroideremia associated with an X-autosomal translocation

18q-mosaicism associated with Rett syndrome phenotype

Chromosomal Jumping from the DXS165 Locus Allows Molecular Characterization of Four Microdeletions and a de novo Chromosome X/13 Translocation Associated with Choroideremia

China and Europe intertwined: a new view of the European sector of the Chang Chun Yuan

A Child With Features of Goldenhar Syndrome and a Novel 1.12 Mb Deletion in 22qll.2 by Cytogenetics and Oligonucleotide Array CGH : Is This a Candidate Region for the Syndrome?

Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions

Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3→p23.3 and a rearranged duplication of 8q24.13→qter

Sensitivity of multiple color spectral karyotyping in detecting small interchromosomal rearrangements

Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome

Direct duplication of 8p21.3→p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features

PARC: ultrafast and accurate clustering of phenotypic data of millions of single cells

Circulating tumor DNA and liquid biopsy in oncology

Suchergebnisse filtern