about
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12Possible role of USP26 in patients with severely impaired spermatogenesisWhat about gr/gr deletions and male infertility? Systematic review and meta-analysisA new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.Array comparative genomic hybridization in male infertility.Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.Aminoacylase I deficiency: a novel inborn error of metabolism.Genetic causes of spermatogenic failure.X chromosomal mutations and spermatogenic failure.Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.Characterisation of a cDNA for porcine PDH-E1 alpha and comparison with the human cDNA.Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher diseaseEarly onset Huntington disease: a neuronal degeneration syndrome.Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.Preimplantation genetic diagnosis for cancer predisposition syndromes.Efficiency and accuracy of polymerase-chain-reaction assay for cystic fibrosis allele delta F508 in single cell.Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13.Is beta-glucuronidase a clinical useful biomarker for an acute organophosphorus poisoning?The genetics of male infertility in relation to cystic fibrosis.Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager.Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome.Discordance for retinitis pigmentosa in two monozygotic twin pairs.Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms.Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.carP, a novel gene regulating the transcription of the carbamoylphosphate synthetase operon of Escherichia coli.Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time.DNA methylation analysis in immature testicular sperm cells at different developmental stages.Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages.Is there a role for the nuclear export factor 2 gene in male infertility?Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L geneAlterations of the USP26 gene in Caucasian menLoss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasiaIdentification of Eight Novel Mutations in a Collaborative Analysis of a Part of the Second Transmembrane Domain of the CFTR GeneBilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene
P50
Q24306951-F5DE838A-21A4-4002-99CD-F99E43A920EFQ28294987-4D79781B-35D6-455E-8EE8-DD6C9D77754FQ28296100-28C40A0E-5F68-49CF-BD9F-C4AE53432334Q31084743-F0DDAE99-A0C4-4FC7-939C-2B5452C1638DQ34246420-86E37FE1-5133-4567-943F-BDF5A525673CQ34306368-A028863A-56D6-4996-9E73-34ED80B85840Q34465848-3ACF6F29-9ABB-4962-95E2-0588E523F5C2Q37074590-258E62AD-A1AD-4096-890E-7A83C5227241Q38013467-7890B6F7-0B97-4FC2-B8CF-A42AF4218A55Q39326113-8CDE5E7B-6B9C-4EB5-882C-2A2A8224AD09Q39818365-610AD2B4-86B4-4A0B-80EF-EFF7A7BDE6FCQ40522728-E044C9C1-B3A9-4064-9AAC-16BD5B76AE66Q42008030-5C48B03F-381D-4FD4-931C-A589AF5C5945Q42466838-4BD2F551-94F8-4B07-A4BF-CDB67F20114AQ43225416-81F13700-BD63-46F8-917C-6EF514613E83Q43445793-7E30FBFC-1F76-4F6E-84FA-26EFCD753B81Q44279094-FB55ECBF-2B3F-457D-889A-C44F7957CFBFQ44525406-3B6F8EF4-E25B-4E61-9FD7-DFAAC22943CFQ45159237-30A1527B-3200-40C3-A241-95DF58CEC6ADQ45304037-A67A0F93-992B-44C0-9B30-5FEDBE8AF6FFQ45345315-A7F71F6A-A197-4AB5-BE7C-7BD29DA40CB3Q46420040-2C4C783A-4EE4-4074-A398-1EC764011421Q47736600-2BE4363B-A5FE-4834-BBD3-7ECAF70EE640Q47858965-4F76EADA-4B05-4630-8D47-AD14EFAC0CFFQ48193631-A2C1225A-4EDC-4ECB-9FDC-73E00AD7A7A3Q49073648-9717A6F3-2F8D-4637-9CAC-7742884C7D20Q49121755-B5101F21-C458-4376-AFF1-BE165EB16AA4Q49144019-A7D81B30-7D39-434C-9ADE-C4E44DCE47F4Q49159532-F9091683-1ADB-4216-94F2-80E28D4EE53BQ49203017-5DF1A067-A53C-4E65-A941-0B1EDA5A7C83Q50120593-23AED5E3-34C9-4B8C-8E20-93FB1FB51F32Q50745424-3A2AB338-6348-4532-9A46-89BAE57EC0EDQ52131432-E9F183E4-1978-49A8-A7DE-5A390C59C80FQ53285763-8EFA240A-5C8E-41EA-A149-1CD2E449B74AQ54547591-6EF2EEAC-240B-4C82-A5A7-7F7FF7EC7C64Q56761880-8E2997E5-155B-4C56-9A83-D7D8453C6D43Q57746815-3A4A60F4-4EDF-4EE6-A789-A57A115D8D7CQ57911323-8592B92E-AD8A-4180-9CB9-5501570FE211Q58194122-5002F2D8-DBE9-4782-A758-3FCD64CDCF10Q70882174-B7E0C64C-22AE-42B8-B090-2BFB0155ECE0
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Willy Lissens
@ast
Willy Lissens
@en
Willy Lissens
@es
Willy Lissens
@nl
Willy Lissens
@sl
type
label
Willy Lissens
@ast
Willy Lissens
@en
Willy Lissens
@es
Willy Lissens
@nl
Willy Lissens
@sl
prefLabel
Willy Lissens
@ast
Willy Lissens
@en
Willy Lissens
@es
Willy Lissens
@nl
Willy Lissens
@sl
P1053
B-2892-2013
P106
P21
P31
P3829
P496
0000-0003-3875-9955