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...

Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

Cytogenetic and genome research, 2012-06, Vol.136 (4), p.242-245

2012

Volltextzugriff (PDF)

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

Human genetics, 2006-02, Vol.118 (6), p.708-715

2006

Volltextzugriff (PDF)

Radiation-Induced Late Effects in Two Affected Individuals of the Lilo Radiation Accident

Radiation research, 2007-05, Vol.167 (5), p.615-623

2007

Volltextzugriff (PDF)

Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

Clinical genetics, 2006-02, Vol.69 (2), p.189-193

2006

Volltextzugriff (PDF)

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

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

2016

Volltextzugriff (PDF)

Deep clinical phenotyping of patients with obsessive-compulsive disorder: an approach towards detection of organic causes and first results

Translational psychiatry, 2023-03, Vol.13 (1), p.83-83, Article 83

2023

Volltextzugriff (PDF)

Genetics of intellectual disability in consanguineous families

Molecular psychiatry, 2019-07, Vol.24 (7), p.1027-1039

2019

Volltextzugriff (PDF)

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

Neurology, 2016-03, Vol.86 (10), p.954-962

2016

Volltextzugriff (PDF)

Mapping translocation breakpoints by next-generation sequencing

Genome Research, 2008-07, Vol.18 (7), p.1143-1149

2008

Volltextzugriff (PDF)

De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

Muscle & nerve, 2014-02, Vol.49 (2), p.289-292

2014

Volltextzugriff (PDF)

Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

Journal of Neural Transmission, 2022-11, Vol.129 (11), p.1387-1391

2022

Volltextzugriff (PDF)

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

Annals of clinical and translational neurology, 2019-07, Vol.6 (7), p.1319-1326

2019

Volltextzugriff (PDF)

Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.94-102

2016

Volltextzugriff (PDF)

Skeletal abnormalities are common features in Aymé‐Gripp syndrome

Clinical genetics, 2020-02, Vol.97 (2), p.362-369

2020

Volltextzugriff (PDF)

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2406-2410

2015

Volltextzugriff (PDF)

Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

Orphanet journal of rare diseases, 2016-08, Vol.11 (1), p.111-111, Article 111

2016

Volltextzugriff (PDF)

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion

Ophthalmic genetics, 2018-10, Vol.39 (5), p.645-647

2018

Volltextzugriff (PDF)

A Defect in the Ionotropic Glutamate Receptor 6 Gene ( GRIK2) Is Associated with Autosomal Recessive Mental Retardation

American journal of human genetics, 2007-10, Vol.81 (4), p.792-798

2007

Volltextzugriff (PDF)

Pierpont syndrome: report of a new patient

Clinical dysmorphology, 2017-10, Vol.26 (4), p.205-208

2017

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)

Congenital CLN disease in two siblings

Wiener medizinische Wochenschrift, 2015-05, Vol.165 (9-10), p.210-213

2015

Volltextzugriff (PDF)

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1915-1922

2013

Volltextzugriff (PDF)

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

Human mutation, 2006-04, Vol.27 (4), p.389-389

2006

Volltextzugriff (PDF)

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

Human mutation, 2009-02, Vol.30 (2), p.E404-E420

2009

Volltextzugriff (PDF)

1 – 25 von 28

Suche als RSS-Feed

Aktive Filter

KollektioneBooks on EBSCOhost

ThemaBiological And Medical Sciences

ThemaMutation

ThemaMale

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(28)
Mit Volltextzugriff
(25)

Publikationsform

Artikel
(28)

Sprache

Englisch
(28)
Japanisch
(6)

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

Radiation-Induced Late Effects in Two Affected Individuals of the Lilo Radiation Accident

Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Deep clinical phenotyping of patients with obsessive-compulsive disorder: an approach towards detection of organic causes and first results

Genetics of intellectual disability in consanguineous families

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

Mapping translocation breakpoints by next-generation sequencing

De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

Skeletal abnormalities are common features in Aymé‐Gripp syndrome

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies

Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion

A Defect in the Ionotropic Glutamate Receptor 6 Gene ( GRIK2) Is Associated with Autosomal Recessive Mental Retardation

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

Pierpont syndrome: report of a new patient

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

Congenital CLN disease in two siblings

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

Aktive Filter

Suchergebnisse filtern