Some remarks regarding the search for a genetic basis for Rett syndrome

Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation.

Genetic counseling (Geneva, Switzerland)·2002

[Roberts-SC phocomelia syndrome].

Gynakologisch-geburtshilfliche Rundschau·2001

Rett syndrome and genetic drift.

Brain & development·1999

Delineation of a clinical syndrome caused by mosaic trisomy 15.

American journal of medical genetics·1996

Premature centromere division: a possible manifestation of chromosome instability.

American journal of medical genetics·1995

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.

Journal of medical genetics·1992

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Human genetics·2026

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

Human genetics·2026

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Human genetics·2026

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Human genetics·2026

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

Human genetics·2026

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

Human genetics·2026

Targeting glycine transporter type 1 (GlyT1) in epilepsy: Pathophysiological rationale and therapeutic perspectives.

Pharmacology & therapeutics·2026

[Autism - Phenotypic variability].

Medicina·2026

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Neurogenetics·2026

A Novel Mutation in ACTG1 as the Probable Cause of Nonsyndromic Hearing Loss in Chinese Han Population.

Neural plasticity·2026

Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate.

Frontiers in genetics·2026

Two Novel Compound Heterozygous CDH23 Mutations Underlying Non-Syndromic Hearing Loss.

International journal of general medicine·2026

Related Experiment Videos

Some remarks regarding the search for a genetic basis for Rett syndrome

Related Concept Videos

Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation.

[Roberts-SC phocomelia syndrome].

Rett syndrome and genetic drift.

Delineation of a clinical syndrome caused by mosaic trisomy 15.

Premature centromere division: a possible manifestation of chromosome instability.

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

Targeting glycine transporter type 1 (GlyT1) in epilepsy: Pathophysiological rationale and therapeutic perspectives.

[Autism - Phenotypic variability].

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

A Novel Mutation in ACTG1 as the Probable Cause of Nonsyndromic Hearing Loss in Chinese Han Population.

Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate.

Two Novel Compound Heterozygous CDH23 Mutations Underlying Non-Syndromic Hearing Loss.

Related Experiment Videos

Some remarks regarding the search for a genetic basis for Rett syndrome

Related Concept Videos

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