Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21)

Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence.

Journal of neurology, neurosurgery, and psychiatry·1995

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

Journal of medical genetics·1995

Costello syndrome: the natural history of a true postnatal growth retardation syndrome.

Genetic counseling (Geneva, Switzerland)·1995

Fragile X boys: evolution of the mental age in childhood. Preliminary data on 10 prepubertal boys.

Genetic counseling (Geneva, Switzerland)·1995

Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome.

Genetic counseling (Geneva, Switzerland)·1995

Mosaic tetrasomy 8p in two patients: clinical data and review of the literature.

American journal of medical genetics·1994

A genome-wide association study of cognitive impairment in a Chinese cohort of 1,040 individuals.

Human genetics·2026

Gene-based association analysis of depression risk among European ancestry Parkinson's disease patients.

Human genetics·2026

Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics.

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Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.

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Geographic barrier contributed to the diversity of maternal and paternal lineages in New Guinea Island.

Human genetics·2026

Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.

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Delayed diagnosis of familial glucocorticoid deficiency type 4 in a child with epilepsy: a case report and literature review.

Journal of pediatric endocrinology & metabolism : JPEM·2026

[Low-frequency trisomy 21 mosaicism diagnosed following conflicting prenatal testing].

Ugeskrift for laeger·2026

Rare Xq23 Microdeletion Involving the DCX and PAK3 Genes Presenting With Lissencephaly, Agenesis of the Corpus Callosum, and Intractable Epilepsy: A Case Report.

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Reduced insulin/IGF-1 signaling extends reproductive span through somatic gonadal collagen-mediated maintenance of oocyte and embryo quality in Caenorhabditis elegans.

Cell communication and signaling : CCS·2026

Lipid requirements for brain development and function: what we can learn from Drosophila melanogaster.

Genome·2026

Genetically proxied sex hormones, Sjögren's disease, and broad dry eye disease: A bidirectional two-sample mendelian randomization study.

Science progress·2026

Related Experiment Videos

Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21)

Related Concept Videos

Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence.

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

Costello syndrome: the natural history of a true postnatal growth retardation syndrome.

Fragile X boys: evolution of the mental age in childhood. Preliminary data on 10 prepubertal boys.

Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome.

Mosaic tetrasomy 8p in two patients: clinical data and review of the literature.

A genome-wide association study of cognitive impairment in a Chinese cohort of 1,040 individuals.

Gene-based association analysis of depression risk among European ancestry Parkinson's disease patients.

Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics.

Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.

Geographic barrier contributed to the diversity of maternal and paternal lineages in New Guinea Island.

Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.

Delayed diagnosis of familial glucocorticoid deficiency type 4 in a child with epilepsy: a case report and literature review.

[Low-frequency trisomy 21 mosaicism diagnosed following conflicting prenatal testing].

Rare Xq23 Microdeletion Involving the DCX and PAK3 Genes Presenting With Lissencephaly, Agenesis of the Corpus Callosum, and Intractable Epilepsy: A Case Report.

Reduced insulin/IGF-1 signaling extends reproductive span through somatic gonadal collagen-mediated maintenance of oocyte and embryo quality in Caenorhabditis elegans.

Lipid requirements for brain development and function: what we can learn from Drosophila melanogaster.

Genetically proxied sex hormones, Sjögren's disease, and broad dry eye disease: A bidirectional two-sample mendelian randomization study.

Related Experiment Videos

Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21)

Abstract:

Related Concept Videos

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