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...

Oral-facial-digital syndrome type 1: Report of a case

Journal of orofacial sciences, 2014-07, Vol.6 (2), p.118-121

2014

Volltextzugriff (PDF)

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Human mutation, 2010-10, Vol.31 (10), p.1142-1154

2010

Volltextzugriff (PDF)

Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2409-2416

2021

Volltextzugriff (PDF)

Planning for the future of a pediatric kidney transplant recipient with special needs: A parent's perspective

Pediatric transplantation, 2021-02, Vol.25 (1), p.e13906-n/a

Carney, Maedi Tanham

2021

Volltextzugriff (PDF)

INTU‐related oral‐facial‐digital syndrome type VI: A confirmatory report

Clinical genetics, 2018-06, Vol.93 (6), p.1205-1209

2018

Volltextzugriff (PDF)

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Clinical genetics, 2016-12, Vol.90 (6), p.509-517

2016

Volltextzugriff (PDF)

Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1383-1389

2017

Volltextzugriff (PDF)

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2132-2137

2015

Volltextzugriff (PDF)

Taurodontism in oral-facial-digital syndrome

Journal of oral research and review, 2024-07, Vol.16 (2), p.137-140

Pramanick, Debasish

2024

Volltextzugriff (PDF)

Thurston Syndrome: An Insight of a Rare Case and Literature Review

International journal of clinical pediatric dentistry, 2024-02, Vol.17 (2), p.206-210

2024

Volltextzugriff (PDF)

Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

Annals of dermatology, 2022-04, Vol.34 (2), p.132

2022

Volltextzugriff (PDF)

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

Human mutation, 2009-02, Vol.30 (2), p.E320-E329

2009

Volltextzugriff (PDF)

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

Iranian journal of public health, 2016-10, Vol.45 (10), p.1359-1366

2016

Volltextzugriff (PDF)

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome

European journal of medical genetics, 2022-06, Vol.65 (6), p.104512-104512, Article 104512

2022

Volltextzugriff (PDF)

A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1

Oral diseases, 2011-09, Vol.17 (6), p.610-614

2011

Volltextzugriff (PDF)

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms

Journal of medical genetics, 2019-11, Vol.56 (11), p.769-777

2019

Volltextzugriff (PDF)

Novel Surgical Technique for Correction of Incomplete Median Cleft Lip Deformity in Oral-Facial-Digital Syndrome Type II

The Journal of craniofacial surgery, 2021-11, Vol.32 (8), p.e741-e742

2021

Volltextzugriff (PDF)

Oral–Facial–Digital Syndrome type VI with self mutilations

The Egyptian journal of medical human genetics, 2014-10, Vol.15 (4), p.399-403

2014

Volltextzugriff (PDF)

Une polykystose peut en cacher une autre. Il n’est jamais trop tard pour l’analyse génétique

Néphrologie & thérapeutique, 2022-04, Vol.18 (2), p.144-147

2022

Volltextzugriff (PDF)

Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

Annals of dermatology, 2022-04, Vol.34 (2), p.132-135

2022

Volltextzugriff (PDF)

Challenges in genetic counseling because of intra‐familial phenotypic variation of oral‐facial‐digital syndrome type 1

Congenital anomalies, 2013-12, Vol.53 (4), p.155-159

2013

Volltextzugriff (PDF)

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

American journal of human genetics, 2019-04, Vol.104 (4), p.731-737

2019

Volltextzugriff (PDF)

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Journal of Medical Genetics, 2017-06, Vol.54 (6), p.371-380

2017

Volltextzugriff (PDF)

Oral-Facial-Digital Syndrome :A Case Report

Journal of clinical and basic research, 2021-01, Vol.5 (1), p.1-6

2021

Volltextzugriff (PDF)

End stage renal disease in a child with oral facial digital syndrome

Journal of nephropathology, 2018-10, Vol.7 (4), p.293-295

Emad Momtaz, Hossein

2018

Volltextzugriff (PDF)

1 – 25 von 109

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(86)
Mit Volltextzugriff
(91)

Publikationsform

Artikel
(106)
Berichte
(3)

Sprache

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(79)
Science & Technology
(79)
Humans
(71)
Oral-Facial-Digital Syndrome
(61)
Female
(45)
Genetics & Heredity
(45)
Orofaciodigital Syndromes - Genetics
(38)
Male
(34)
Mutation
(29)
Biological And Medical Sciences
(26)
Medical Sciences
(25)
Phenotype
(20)
Polydactyly
(20)
Infant
(18)
Adult
(17)
Infant, Newborn
(17)
Syndrome
(16)
Abnormalities, Multiple - Genetics
(15)
Medical Genetics
(15)
Orofaciodigital Syndromes - Pathology
(15)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Oral-facial-digital syndrome type 1: Report of a case

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes

Planning for the future of a pediatric kidney transplant recipient with special needs: A parent's perspective

INTU‐related oral‐facial‐digital syndrome type VI: A confirmatory report

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI

Taurodontism in oral-facial-digital syndrome

Thurston Syndrome: An Insight of a Rare Case and Literature Review

Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome

A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms

Novel Surgical Technique for Correction of Incomplete Median Cleft Lip Deformity in Oral-Facial-Digital Syndrome Type II

Oral–Facial–Digital Syndrome type VI with self mutilations

Une polykystose peut en cacher une autre. Il n’est jamais trop tard pour l’analyse génétique

Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

Challenges in genetic counseling because of intra‐familial phenotypic variation of oral‐facial‐digital syndrome type 1

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Oral-Facial-Digital Syndrome :A Case Report

End stage renal disease in a child with oral facial digital syndrome

Suchergebnisse filtern