UB Paderborn / Katalog / Suche / in CDI

1 – 13 von 13

Sortiert nach

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

Journal of medical genetics, 2008-11, Vol.45 (11), p.704-709

2008

Volltextzugriff (PDF)

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

American journal of human genetics, 2005-02, Vol.76 (2), p.227-236

2005

Volltextzugriff (PDF)

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Human mutation, 2008-10, Vol.29 (10), p.1237-1246

2008

Volltextzugriff (PDF)

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Epilepsia (Copenhagen), 2016-11, Vol.57 (11), p.1858-1869

2016

Volltextzugriff (PDF)

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

The Lancet (British edition), 2012-11, Vol.380 (9854), p.1674-1682

2012

Volltextzugriff (PDF)

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American journal of human genetics, 2012-05, Vol.90 (5), p.847-855

2012

Volltextzugriff (PDF)

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

American journal of human genetics, 2009-12, Vol.85 (6), p.909-915

2009

Volltextzugriff (PDF)

Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability

American journal of medical genetics. Part A, 2013-04, Vol.161 (4), p.860-864

2013

Volltextzugriff (PDF)

Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms

American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.653-656

2015

Volltextzugriff (PDF)

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

European journal of human genetics : EJHG, 2009-04, Vol.17 (4), p.420-425

2009

Volltextzugriff (PDF)

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.620-626

2014

Volltextzugriff (PDF)

Novel GDI1 mutation in a large family with nonsyndromic X‐linked intellectual disability

American journal of medical genetics. Part A, 2011-12, Vol.155 (12), p.3067-3070

2011

Volltextzugriff (PDF)

Czech dysplasia: Report of a large family and further delineation of the phenotype

American journal of medical genetics. Part A, 2008-07, Vol.146A (14), p.1859-1864

2008

Volltextzugriff (PDF)

1 – 13 von 13

Suche als RSS-Feed

Aktive Filter

ThemaChild

ThemaPhenotype

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(13)
Mit Volltextzugriff
(13)

Publikationsform

Artikel
(13)

Sprache

Englisch
(13)
Japanisch
(3)

Erscheinungsjahr

n.n

Thema

Humans
(13)
Life Sciences & Biomedicine
(12)
Male
(12)
Science & Technology
(12)
Female
(11)
Genetics & Heredity
(10)
Biological And Medical Sciences
(8)
Medical Sciences
(8)
Intellectual Disability - Genetics
(7)
Medical Genetics
(7)
Mutation
(7)
Adolescent
(6)
Adult
(6)
Child, Preschool
(6)
Adult And Adolescent Clinical Studies
(5)
Intellectual Deficiency
(5)
Pedigree
(5)
Psychology. Psychoanalysis. Psychiatry
(5)

13 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability

Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

Novel GDI1 mutation in a large family with nonsyndromic X‐linked intellectual disability

Czech dysplasia: Report of a large family and further delineation of the phenotype

Aktive Filter

Suchergebnisse filtern