UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 31

Sortiert nach

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review

American journal of medical genetics. Part A, 2023-10, Vol.191 (10), p.2493-2507

2023

Link zum Volltext

Verfügbarkeit prüfen

Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum

Orthodontics & craniofacial research, 2021-11, Vol.24 (4), p.575-584

2021

Link zum Volltext

Verfügbarkeit prüfen

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome

American journal of medical genetics. Part A, 2019-11, Vol.179 (11), p.2170-2177

2019

Link zum Volltext

Verfügbarkeit prüfen

Auriculo-condylar syndrome. Confronting a diagnostic challenge

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.59-65

2012

Link zum Volltext

Verfügbarkeit prüfen

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.938-945

2017

Link zum Volltext

Verfügbarkeit prüfen

Mandibulofacial dysostosis Bauru type: Refining the phenotype

American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1747-1753

2017

Link zum Volltext

Verfügbarkeit prüfen

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.2003-2008

2012

Link zum Volltext

Verfügbarkeit prüfen

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X‐linked syndrome?

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2762-2764

2009

Link zum Volltext

Verfügbarkeit prüfen

Cerebro-oculo-nasal syndrome: Report of a case with a severe phenotype

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.519-520

2009

Link zum Volltext

Verfügbarkeit prüfen

Identification of a de novo PUF60 variant associated with craniofacial microsomia

American journal of medical genetics. Part A, 2024-04, p.e63631

2024

Link zum Volltext

Verfügbarkeit prüfen

A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects

Bone (New York, N.Y.), 2021-12, Vol.153, p.116152-116152, Article 116152

2021

Link zum Volltext

Verfügbarkeit prüfen

Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature

Clinical dysmorphology, 2009-04, Vol.18 (2), p.67

2009

Link zum Volltext

Verfügbarkeit prüfen

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

American journal of human genetics, 2013-12, Vol.93 (6), p.1118-1125

2013

Link zum Volltext

Verfügbarkeit prüfen

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

European journal of human genetics : EJHG, 2018-02, Vol.26 (2), p.210-219

2018

Link zum Volltext

Verfügbarkeit prüfen

Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome

Clinical dysmorphology, 2023-01, Vol.32 (1), p.21

2023

Link zum Volltext

Verfügbarkeit prüfen

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Journal of pediatric genetics (Birmingham, Ala.), 2020-12, Vol.9 (4), p.258-262

2020

Link zum Volltext

Verfügbarkeit prüfen

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

European journal of human genetics : EJHG, 2015-04, Vol.23 (4), p.481-485

2015

Link zum Volltext

Verfügbarkeit prüfen

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

Molecular syndromology, 2016-11, Vol.7 (6), p.344-348

2016

Link zum Volltext

Verfügbarkeit prüfen

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

Journal of pediatric genetics (Birmingham, Ala.), 2017-06, Vol.6 (2), p.103-106

2017

Link zum Volltext

Verfügbarkeit prüfen

An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases

Clinical dysmorphology, 2015-10, Vol.24 (4), p.144

2015

Link zum Volltext

Verfügbarkeit prüfen

Analysis of MLL2 genein the first Brazilian family with Kabuki syndrome

American journal of medical genetics. Part A, 2012-06 (8), p.2003-2008

2012

Link zum Volltext

Verfügbarkeit prüfen

Analysis of MLL2 Gene in the First razilian Family With Kabuki Syndrome

American journal of medical genetics. Part A, 2012, Vol.158 (8), p.2003-2008

2012

Link zum Volltext

Verfügbarkeit prüfen

Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases

Journal of pediatric genetics (Birmingham, Ala.), 2013-12, Vol.2 (4), p.173-180

2013

Link zum Volltext

Verfügbarkeit prüfen

Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients

Clinical ophthalmology (Auckland, N.Z.), 2007-06, Vol.1 (2), p.183-187

2007

Link zum Volltext

Verfügbarkeit prüfen

Identification of a de novo PUF60 variant associated with craniofacial microsomia

American journal of medical genetics. Part A, 2024, p.e63631-e63631

2024

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 31

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(24)
Mit Volltextzugriff
(28)

Publikationsform

Artikel
(24)
Berichte
(7)

Sprache

Englisch
(31)
Japanisch
(4)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review

Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome

Auriculo-condylar syndrome. Confronting a diagnostic challenge

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

Mandibulofacial dysostosis Bauru type: Refining the phenotype

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X‐linked syndrome?

Cerebro-oculo-nasal syndrome: Report of a case with a severe phenotype

Identification of a de novo PUF60 variant associated with craniofacial microsomia

A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects

Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases

Analysis of MLL2 genein the first Brazilian family with Kabuki syndrome

Analysis of MLL2 Gene in the First razilian Family With Kabuki Syndrome

Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases

Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients

Identification of a de novo PUF60 variant associated with craniofacial microsomia

Suchergebnisse filtern