about
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical pictureInfluence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency.Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations.Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsUniparental disomy: can SNP array data be used for diagnosis?Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.Cytogenetic and molecular cytogenetic characterization of the stable ovarian carcinoma cell line (OvBH-1).Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features.Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p.Opposite responses in two DNA repair capacity tests in lymphocytes of head and neck cancer patients.A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease.Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization.A child with deletion (14)(q24.3q32.13) and auditory neuropathy.8q22-->qter duplication in a child with multiple congenital malformations: case reportBleomycin-induced chromosome aberrations in head and neck cancer patients analyzed by classical cytogenetics and FISH[Individual sensitivity to the mutagenic agents in patients with larynx cancer]FISH-mapping of telomeric 14q32 deletions: search for the cause of seizuresA child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlationsA co-occurrence of osteogenesis imperfecta type VI and cystinosisBPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Kamilla Schlade-Bartusiak
@ast
Kamilla Schlade-Bartusiak
@en
Kamilla Schlade-Bartusiak
@es
Kamilla Schlade-Bartusiak
@nl
Kamilla Schlade-Bartusiak
@sl
type
label
Kamilla Schlade-Bartusiak
@ast
Kamilla Schlade-Bartusiak
@en
Kamilla Schlade-Bartusiak
@es
Kamilla Schlade-Bartusiak
@nl
Kamilla Schlade-Bartusiak
@sl
prefLabel
Kamilla Schlade-Bartusiak
@ast
Kamilla Schlade-Bartusiak
@en
Kamilla Schlade-Bartusiak
@es
Kamilla Schlade-Bartusiak
@nl
Kamilla Schlade-Bartusiak
@sl
P106
P31
P496
0000-0003-3226-7423