about
A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genomeMale infertility and the involvement of the X chromosomePossible role of USP26 in patients with severely impaired spermatogenesisWhat about gr/gr deletions and male infertility? Systematic review and meta-analysisArray comparative genomic hybridization in male infertility.SYCP3 mutations are uncommon in patients with azoospermia.Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and "freeze-all": in-depth analysis of genetic predisposition.Convert your favorite protein modeling program into a mutation predictor: "MODICT"Genetic causes of spermatogenic failure.Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeX chromosomal mutations and spermatogenic failure.Male Infertility: Genetics, Mechanism, and Therapies.Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.I-PV: a CIRCOS module for interactive protein sequence visualization.Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?Characterization of the genomic organization, localization and expression of four PRY genes (PRY1, PRY2, PRY3 and PRY4).Expression pattern of the Y-linked PRY gene suggests a function in apoptosis but not in spermatogenesis.Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.Expanding the clinical spectrum of biallelic ZNF335 variants.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?The role of the testis-specific gene hTAF7L in the aetiology of male infertility.Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformationsTubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1The landscape of epilepsy-related GATOR1 variantsGenetic causes of male infertilityDo we need to search for gr/gr deletions in infertile men in a clinical setting?Alterations of the USP26 gene in Caucasian menThe choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletionThe role of USP9Y and DBY in infertile patients with severely impaired spermatogenesisValidation of a simple Yq deletion screening programme in an ICSI candidate populationCorrection to: The landscape of epilepsy-related GATOR1 variantsHeterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamicsClinical implementation of gene panel testing for lysosomal storage diseases.Are AZFb deletions always incompatible with sperm production?Rare genetic variants potentially involved in ovarian hyperstimulation syndromeA new mutation in the calcium-sensing receptor gene causing hypocalcaemia: case report of a father and two sons
P50
Q27006381-001B2ECB-F209-49FE-91EE-D265007B31C6Q28248156-03073725-BE5F-4B14-8267-38F62B852B4FQ28294987-7EAFA089-C484-4E61-82AD-EDB34C60DF19Q28296100-BBB19A23-63E3-433A-9A29-FBD76AE1C718Q34246420-09201678-8E1E-40D7-9A40-854E93F74F91Q34458096-46816BB4-D6C4-4364-BEE9-BBBE7C613DEAQ35938164-B512693A-BC97-4108-A661-2ED78EAF6AF0Q36168170-728FE7FB-518E-486D-882E-154E57ADB953Q37074590-EAD54A86-6883-47F7-8139-798B0765582AQ37218530-F92AFCBB-040B-46B3-B8B3-6CD0B829AB0AQ38013467-3EC5FF98-21C7-4608-A683-6EC6118CD428Q38416526-8808D7FD-5621-499C-8E28-85FD92C729C2Q38930527-5B4D85BB-B817-4311-BF20-0A8724439274Q40445763-0A93DDE5-6C0E-43A5-9696-8CFC2689E454Q41950933-7A9E37D9-1833-4763-8A86-D275081F9092Q41999133-0ACDA4FB-BAA7-43BF-B5A3-007E3152848BQ43649188-211A2DE0-295D-4EC9-BFDD-16E031E9C275Q47331103-2CD128CC-961C-4402-A042-0BDAFA900A5CQ48231221-348AB9E8-BD81-4514-B035-9114FBD12649Q52590310-393F6A73-B818-4E95-A3D8-BF401A673541Q53285763-A64D9A32-9E4C-4C20-8449-2187FF226427Q54547591-4804EB4C-1FAD-437E-B9A1-F70E7F3DB031Q54610181-77E98583-456E-4F80-B0A7-739C68476C5CQ56232627-900CB141-DA80-4B03-8672-BFFE495C3504Q56234418-8C0E5285-96FB-439B-9133-29D47278AF26Q56344652-EB9A2B9C-8D8B-492C-8687-0E843F0D9616Q57746787-878B7ABE-3F4D-4BDE-92DE-4C646B3DA846Q57746808-B8ACBCAA-12A7-4DB0-B421-257168D445CDQ57746815-8FC82A4C-AE7F-410F-85BB-2173AD98852CQ57746828-8AB15BC2-9DC0-4E85-A1E3-ACC56ABE4892Q57746838-79D33A61-6FDF-4225-ABC9-1A2492076F44Q57746843-355A6ADC-A7A3-429E-AD7D-0155E5E465C6Q60453001-979C9978-5FA9-4236-8106-81A1450E959CQ64084150-62E3E75A-E8D8-4A12-8C41-FF69018EBDCEQ64973105-B6784117-E3A2-416F-AEF2-BF5B8C61E4E5Q87797661-ADC7CE4F-16FB-4736-B4D7-FDD20291CA13Q93358265-5F41F5F0-C45B-46D3-9862-175FE14D9BDFQ95370655-B38F34F4-F0B5-495C-8A87-63470004D5D3
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Katrien Stouffs
@ast
Katrien Stouffs
@en
Katrien Stouffs
@es
Katrien Stouffs
@nl
Katrien Stouffs
@sl
type
label
Katrien Stouffs
@ast
Katrien Stouffs
@en
Katrien Stouffs
@es
Katrien Stouffs
@nl
Katrien Stouffs
@sl
prefLabel
Katrien Stouffs
@ast
Katrien Stouffs
@en
Katrien Stouffs
@es
Katrien Stouffs
@nl
Katrien Stouffs
@sl
P1053
L-5982-2015
P106
P21
P31
P3829
P496
0000-0001-8164-5692