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...

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

American journal of human genetics, 2002-06, Vol.70 (6), p.1555-1563

2002

Volltextzugriff (PDF)

Noonan syndrome

Orphanet journal of rare diseases, 2007-01, Vol.2 (1), p.4-4, Article 4

van der Burgt, Ineke

2007

Volltextzugriff (PDF)

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

Journal of medical genetics, 2019-10, Vol.56 (10), p.654-661

2019

Volltextzugriff (PDF)

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Nature neuroscience, 2016-09, Vol.19 (9), p.1194-1196

2016

Volltextzugriff (PDF)

Identification of mutations in CUL7 in 3-M syndrome

Nature genetics, 2005-10, Vol.37 (10), p.1119-1124

2005

Volltextzugriff (PDF)

BRIT1/MCPH1 links chromatin remodelling to DNA damage response

Nature cell biology, 2009-07, Vol.11 (7), p.865-872

2009

Volltextzugriff (PDF)

Germline KRAS mutations cause Noonan syndrome

Nature genetics, 2006-03, Vol.38 (3), p.331-336

2006

Volltextzugriff (PDF)

Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

American journal of human genetics, 2004-09, Vol.75 (3), p.492-497

2004

Volltextzugriff (PDF)

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Genetics in medicine, 2021-07, Vol.23 (7), p.1202-1210

2021

Volltextzugriff (PDF)

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

American journal of human genetics, 2006-02, Vol.78 (2), p.279-290

2006

Volltextzugriff (PDF)

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

American journal of human genetics, 2010-08, Vol.87 (2), p.250-257

2010

Volltextzugriff (PDF)

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.51-60

2021

Volltextzugriff (PDF)

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

American journal of human genetics, 2017-11, Vol.101 (5), p.824-832

2017

Volltextzugriff (PDF)

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients

European journal of pediatrics, 2018-08, Vol.177 (8), p.1293-1298

2018

Volltextzugriff (PDF)

Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Nature genetics, 2001-12, Vol.29 (4), p.465-468

2001

Volltextzugriff (PDF)

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2731-2736

2020

Volltextzugriff (PDF)

First‐year growth in children with Noonan syndrome: Associated with feeding problems?

American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.951-958

2018

Volltextzugriff (PDF)

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

American journal of human genetics, 2003-12, Vol.73 (6), p.1261-1270

2003

Volltextzugriff (PDF)

External ear anomalies and hearing impairment in Noonan Syndrome

International journal of pediatric otorhinolaryngology, 2015-06, Vol.79 (6), p.874-878

2015

Volltextzugriff (PDF)

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1481-n/a

2020

Volltextzugriff (PDF)

Ocular Manifestations of Noonan Syndrome

Ophthalmology (Rochester, Minn.), 2016-10, Vol.123 (10), p.2137-2146

2016

Volltextzugriff (PDF)

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

Disease models & mechanisms, 2011-05, Vol.4 (3), p.393-399

2011

Volltextzugriff (PDF)

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.138-144

2011

Volltextzugriff (PDF)

Noonan syndrome: Psychological and psychiatric aspects

American journal of medical genetics. Part A, 2008-01, Vol.146A (2), p.191-196

2008

Volltextzugriff (PDF)

1 – 25 von 88

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(76)
Mit Volltextzugriff
(78)

Publikationsform

Artikel
(85)
Berichte
(3)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

Noonan syndrome

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Identification of mutations in CUL7 in 3-M syndrome

BRIT1/MCPH1 links chromatin remodelling to DNA damage response

Germline KRAS mutations cause Noonan syndrome

Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients

Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism

First‐year growth in children with Noonan syndrome: Associated with feeding problems?

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

External ear anomalies and hearing impairment in Noonan Syndrome

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

Ocular Manifestations of Noonan Syndrome

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

PORCN mutations in focal dermal hypoplasia: coping with lethality

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

Noonan syndrome: Psychological and psychiatric aspects

Suchergebnisse filtern