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...

Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2587-2590

2016

Volltextzugriff (PDF)

Growth pattern of Rahman syndrome

American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.712-714

2018

Volltextzugriff (PDF)

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1182-1186

2021

Volltextzugriff (PDF)

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.431-437

2018

Volltextzugriff (PDF)

SATB2‐associated syndrome in patients from Japan: Linguistic profiles

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.896-899

2019

Volltextzugriff (PDF)

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1221-1237

2013

Volltextzugriff (PDF)

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1083-1094

2012

Volltextzugriff (PDF)

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations

American journal of medical genetics. Part A, 2014-08, Vol.164A (8), p.1899-1908

2014

Volltextzugriff (PDF)

MBTPS2 mutation causes BRESEK/BRESHECK syndrome

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.97-102

2012

Volltextzugriff (PDF)

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.908-917

2016

Volltextzugriff (PDF)

The CASK gene harbored in a deletion detected by array‐CGH as a potential candidate for a gene causative of X‐linked dominant mental retardation

American journal of medical genetics. Part A, 2008-08, Vol.146A (16), p.2145-2151

2008

Volltextzugriff (PDF)

Expanding the phenotype of biallelic loss‐of‐function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.282-285

2021

Volltextzugriff (PDF)

Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly

American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63614-n/a

2024

Volltextzugriff (PDF)

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome

American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.446-453

2022

Volltextzugriff (PDF)

Cover Image, Volume 179A, Number 6, June 2019

American journal of medical genetics. Part A, 2019-06, Vol.179 (6)

2019

Volltextzugriff (PDF)

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.407-411

2015

Volltextzugriff (PDF)

MLL2 and KDM6A mutations in patients with Kabuki syndrome

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2234-2243

2013

Volltextzugriff (PDF)

R3HDM1 haploinsufficiency is associated with mild intellectual disability

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1776-1786

2021

Volltextzugriff (PDF)

Surgical intervention for esophageal atresia in patients with trisomy 18

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.324-330

2014

Volltextzugriff (PDF)

Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations

American journal of medical genetics. Part A, 2012-12, Vol.158A (12), p.3112-3118

2012

Volltextzugriff (PDF)

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.597-609

2014

Volltextzugriff (PDF)

Ophthalmic features of CHARGE syndrome with CHD7 mutations

American journal of medical genetics. Part A, 2012-03, Vol.158A (3), p.514-518

2012

Volltextzugriff (PDF)

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1‐qter)

American journal of medical genetics. Part A, 2011-09, Vol.155 (9), p.2274-2280

2011

Volltextzugriff (PDF)

The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1292-1303

2012

Volltextzugriff (PDF)

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation

American journal of medical genetics. Part A, 2010-12, Vol.152A (12), p.3057-3067

2010

Volltextzugriff (PDF)

1 – 25 von 26

Suche als RSS-Feed

Aktive Filter

Zeitschrift / SerieAmerican Journal Of Medical Genetics. Part A

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(26)
Mit Volltextzugriff
(26)

Publikationsform

Artikel
(26)

Sprache

Englisch
(26)
Japanisch
(11)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

Zeitschrift / Serie

American Journal Of Medical Genetics Part A
(11)

Menü

Weitere Dienste

Einstellungen

Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype

Growth pattern of Rahman syndrome

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1

SATB2‐associated syndrome in patients from Japan: Linguistic profiles

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations

MBTPS2 mutation causes BRESEK/BRESHECK syndrome

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

The CASK gene harbored in a deletion detected by array‐CGH as a potential candidate for a gene causative of X‐linked dominant mental retardation

Expanding the phenotype of biallelic loss‐of‐function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications

Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome

Cover Image, Volume 179A, Number 6, June 2019

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines

MLL2 and KDM6A mutations in patients with Kabuki syndrome

R3HDM1 haploinsufficiency is associated with mild intellectual disability

Surgical intervention for esophageal atresia in patients with trisomy 18

Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome

Ophthalmic features of CHARGE syndrome with CHD7 mutations

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1‐qter)

The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation

Aktive Filter

Suchergebnisse filtern