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15 Einträge gefunden

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism
2021 - Forschungsinformationssystem des UKE
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies
2020 - Forschungsinformationssystem des UKE
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance
2017 - Forschungsinformationssystem des UKE
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia
2016 - Forschungsinformationssystem des UKE
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome
2015 - Forschungsinformationssystem des UKE
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients
2015 - Forschungsinformationssystem des UKE
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
2015 - Forschungsinformationssystem des UKE
Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry
2013 - Forschungsinformationssystem des UKE - frei zugänglich
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
2012 - Forschungsinformationssystem des UKE
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
2012 - Forschungsinformationssystem des UKE
Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.
2012 - Forschungsinformationssystem des UKE
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
2011 - Forschungsinformationssystem des UKE - frei zugänglich
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
2010 - Forschungsinformationssystem des UKE
Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunity.
2006 - Forschungsinformationssystem des UKE - frei zugänglich
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
2005 - Forschungsinformationssystem des UKE

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Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunity.

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.