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...

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

Clinical genetics, 2014-10, Vol.86 (4), p.326-334

2014

Volltextzugriff (PDF)

Incomplete penetrance of biallelic ALDH1A3 mutations

European journal of medical genetics, 2016-04, Vol.59 (4), p.215-218

2016

Volltextzugriff (PDF)

Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew‐Wood syndrome

Birth defects research, 2017-03, Vol.109 (4), p.251-253

2017

Volltextzugriff (PDF)

Anophthalmia and microphthalmia

Orphanet journal of rare diseases, 2007-11, Vol.2 (1), p.47-47, Article 47

2007

Volltextzugriff (PDF)

Elevated levels of Merkel cell polyoma virus in the anophthalmic conjunctiva

Scientific reports, 2021-07, Vol.11 (1), p.15366-15366, Article 15366

2021

Volltextzugriff (PDF)

Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia

American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1589-1594

2022

Volltextzugriff (PDF)

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.187-198

2022

Volltextzugriff (PDF)

Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men

The journal of clinical endocrinology and metabolism, 2019-07, Vol.104 (7), p.2925-2930

2019

Volltextzugriff (PDF)

Canonical Wnt/β-catenin signalling is essential for optic cup formation

PloS one, 2013-12, Vol.8 (12), p.e81158-e81158

2013

Volltextzugriff (PDF)

Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation

International journal of molecular sciences, 2019-12, Vol.20 (24), p.6144

2019

Volltextzugriff (PDF)

Recurrent Fetal Anophthalmia Caused by retinoids acid gene 6 mutations: Correlation between prenatal ultrasonography, magnetic resonance imaging, and pathology

Taiwanese journal of obstetrics & gynecology, 2022-01, Vol.61 (1), p.180-185

2022

Volltextzugriff (PDF)

Morphological Changes in the Lacrimal Gland of Anophthalmic Socket in Relation to the Contralateral Normal Eye in Male Wistar Albino Rats: A Histopathology Study

Current eye research, 2021-12, Vol.46 (12), p.1816-1821

2021

Volltextzugriff (PDF)

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

Journal of human genetics, 2018-11, Vol.63 (11), p.1169-1180

2018

Volltextzugriff (PDF)

Imaging studies in congenital anophthalmia reveal preservation of brain architecture in ‘visual’ cortex

Brain (London, England : 1878), 2009-12, Vol.132 (12), p.3467-3480

2009

Volltextzugriff (PDF)

Mutations in ALDH1A3 Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families

Human mutation, 2014-08, Vol.35 (8), p.949-953

2014

Volltextzugriff (PDF)

Congenital microcephaly‐linked CDK5RAP2 affects eye development

Annals of human genetics, 2020-01, Vol.84 (1), p.87-91

2020

Volltextzugriff (PDF)

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype

Human mutation, 2011-12, Vol.32 (12), p.1417-1426

2011

Volltextzugriff (PDF)

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation

European journal of medical genetics, 2015-08, Vol.58 (8), p.387-391

2015

Volltextzugriff (PDF)

Anophthalmia in a Wild Eastern Gray Squirrel (Sciurus carolinensis)

Journal of wildlife diseases, 2017-10, Vol.53 (4), p.942-945

2017

Volltextzugriff (PDF)

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2706-2715

2009

Volltextzugriff (PDF)

The response of the anophthalmic socket to prosthetic eye wear

Clinical and experimental optometry, 2013-07, Vol.96 (4), p.388-393

2013

Volltextzugriff (PDF)

Whole-genome copy number variation analysis in anophthalmia and microphthalmia

Clinical genetics, 2013-11, Vol.84 (5), p.473-481

2013

Volltextzugriff (PDF)

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.11-18

2016

Volltextzugriff (PDF)

Language Networks in Anophthalmia: Maintained Hierarchy of Processing in "Visual" Cortex

Brain (London, England : 1878), 2012-05, Vol.135 (5), p.1566-1577

2012

Volltextzugriff (PDF)

SOX2 anophthalmia syndrome

American journal of medical genetics. Part A, 2005-05, Vol.135A (1), p.1-7

2005

Volltextzugriff (PDF)

1 – 25 von 285

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(225)
Mit Volltextzugriff
(184)

Publikationsform

Artikel
(285)

Sprache

8 weitere anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Science & Technology
(221)
Humans
(218)
Life Sciences & Biomedicine
(217)
Anophthalmos - Pathology
(177)
Female
(148)
Male
(144)
Ophthalmology
(84)
Animals
(83)
Biological And Medical Sciences
(82)
Anophthalmos - Genetics
(75)
Medical Sciences
(74)
Genetics & Heredity
(70)
Infant, Newborn
(64)
Infant
(63)
Anophthalmia
(58)
Adult
(51)
Abnormalities, Multiple - Pathology
(45)
Magnetic Resonance Imaging
(44)
Anophthalmos - Complications
(41)
Syndrome
(40)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

Incomplete penetrance of biallelic ALDH1A3 mutations

Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew‐Wood syndrome

Anophthalmia and microphthalmia

Elevated levels of Merkel cell polyoma virus in the anophthalmic conjunctiva

Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study

Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men

Canonical Wnt/β-catenin signalling is essential for optic cup formation

Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation

Recurrent Fetal Anophthalmia Caused by retinoids acid gene 6 mutations: Correlation between prenatal ultrasonography, magnetic resonance imaging, and pathology

Morphological Changes in the Lacrimal Gland of Anophthalmic Socket in Relation to the Contralateral Normal Eye in Male Wistar Albino Rats: A Histopathology Study

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

Imaging studies in congenital anophthalmia reveal preservation of brain architecture in ‘visual’ cortex

Mutations in ALDH1A3 Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families

Congenital microcephaly‐linked CDK5RAP2 affects eye development

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation

Anophthalmia in a Wild Eastern Gray Squirrel (Sciurus carolinensis)

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia

The response of the anophthalmic socket to prosthetic eye wear

Whole-genome copy number variation analysis in anophthalmia and microphthalmia

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly

Language Networks in Anophthalmia: Maintained Hierarchy of Processing in "Visual" Cortex

SOX2 anophthalmia syndrome

Suchergebnisse filtern