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...

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

European journal of medical genetics, 2017-02, Vol.60 (2), p.118-123

2017

Volltextzugriff (PDF)

Report of second case and clinical and molecular characterization of Eiken syndrome

Clinical genetics, 2018-11, Vol.94 (5), p.457-460

2018

Volltextzugriff (PDF)

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

Journal of the European Academy of Dermatology and Venereology, 2017-01, Vol.31 (1), p.e17

2017

Volltextzugriff (PDF)

Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India

Clinical and experimental dermatology, 2020-06, Vol.45 (4), p.409-413

2020

Volltextzugriff (PDF)

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1

Clinical genetics, 2017-09, Vol.92 (3), p.323-326

2017

Volltextzugriff (PDF)

Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve–Melchior–Clausen syndrome

European journal of medical genetics, 2008-05, Vol.51 (3), p.251-256

2008

Volltextzugriff (PDF)

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss

Journal of the European Academy of Dermatology and Venereology, 2022-09, Vol.36 (9), p.1606-1611

2022

Volltextzugriff (PDF)

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2820-2828

2012

Volltextzugriff (PDF)

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome

Clinical genetics, 2014-10, Vol.86 (4), p.318-325

2014

Volltextzugriff (PDF)

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB

Clinical genetics, 2018-07, Vol.94 (1), p.159-164

2018

Volltextzugriff (PDF)

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

Clinical genetics, 2016-12, Vol.90 (6), p.496-508

2016

Volltextzugriff (PDF)

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

Journal of the European Academy of Dermatology and Venereology, 2017-01, Vol.31 (1), p.e17-e20

2017

Volltextzugriff (PDF)

Glycosaminoglycan levels in dried blood spots of patients with mucopolyasccharidoses and mucolipidoses

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S76-S77

2017

Volltextzugriff (PDF)

Down syndrome:: Clinical profile from India

Archives of medical research, 2004, Vol.35 (1), p.31-35

2004

Volltextzugriff (PDF)

Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.759-763

2010

Volltextzugriff (PDF)

Preimplantation diagnosis of genetic diseases

Journal of postgraduate medicine (Bombay), 2011-03, Vol.56 (4)

2011

Volltextzugriff (PDF)

Handless, footless fetus

Clinical dysmorphology, 2006-10, Vol.15 (4), p.233-234

2006

Volltextzugriff (PDF)

Down syndrome

Archives of medical research, 2004-01, Vol.35 (1), p.31-35

2004

Volltextzugriff (PDF)

Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?

American Journal of Medical Genetics Part A, 2010, Vol.152A (3), p.759-763

2010

Volltextzugriff (PDF)

1 – 19 von 19

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(18)
Mit Volltextzugriff
(18)

Publikationsform

Artikel
(18)
Berichte
(1)

Sprache

Englisch
(18)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

Report of second case and clinical and molecular characterization of Eiken syndrome

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1

Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve–Melchior–Clausen syndrome

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

Glycosaminoglycan levels in dried blood spots of patients with mucopolyasccharidoses and mucolipidoses

Down syndrome:: Clinical profile from India

Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?

Preimplantation diagnosis of genetic diseases

Handless, footless fetus

Down syndrome

Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?

Suchergebnisse filtern