about
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosisPTEN mutations as a cause of constitutive insulin sensitivity and obesity.Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.Homozygous mutation in ELMO2 may cause Ramon syndrome.Changes over time in sex assignment for disorders of sex development.New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.Functional disomy resulting from duplications of distal Xq in four unrelated patients.Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.Clinical and genetic aspects of KBG syndrome.Amniotic bands in paternal half-siblings.Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes.Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaKing–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) geneGene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert PanelNablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeA study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibilityPhenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutationsExpanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayClinical and radiographic delineation of odontochondrodysplasiaClinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndromeA clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletionsHereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findingsBreakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidismIncomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalitiesContribution of retrotransposition to developmental disordersPTEN Hamartoma tumor syndrome in childhood: A review of the clinical literatureRefining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literatureDeep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotypeThe CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisModeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs
P50
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Katherine L Lachlan
@en
Katherine L Lachlan
@nl
type
label
Katherine L Lachlan
@en
Katherine L Lachlan
@nl
prefLabel
Katherine L Lachlan
@en
Katherine L Lachlan
@nl
P31
P496
0000-0002-3816-7346