about
Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome.Pattern of clinical genetics referral following perinatal postmortems.Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutation.Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication.A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay.Genotype-phenotype study in type V osteogenesis imperfecta.Short sternum: feature of trisomy chromosome 7 and a new association?Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.P4HB recurrent missense mutation causing Cole-Carpenter syndrome.Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.Clinical and molecular characterization of the first familial report of 1p32 microdeletion.Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa.Inherited duplication of the short arm of chromosome 18p11.32-p11.31 associated with developmental delay/intellectual disability.Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boy.A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures.Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1.Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.De novo mutations in HNRNPU result in a neurodevelopmental syndrome.Pneumothorax from subpleural blebs-a new association of sotos syndrome?Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation.Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.Congenital myotonic dystrophy: natural disease progression and facial dysmorphology.Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.Autism and heritable bone fragility: A true association?Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt.Response to Finsterer: CPT-II deficiency needs to be detected in army personnel.
P50
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
@nl
հետազոտող
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name
Meena Balasubramanian
@ast
Meena Balasubramanian
@en
Meena Balasubramanian
@es
Meena Balasubramanian
@nl
Meena Balasubramanian
@sl
type
label
Meena Balasubramanian
@ast
Meena Balasubramanian
@en
Meena Balasubramanian
@es
Meena Balasubramanian
@nl
Meena Balasubramanian
@sl
prefLabel
Meena Balasubramanian
@ast
Meena Balasubramanian
@en
Meena Balasubramanian
@es
Meena Balasubramanian
@nl
Meena Balasubramanian
@sl
P106
P1153
26428711100
P21
P31
P496
0000-0003-1488-3695
P569
2000-01-01T00:00:00Z