[Genetic study of thanatophoric dwarfism]

Guidelines for presymptomatic testing for Huntington's disease: past, present and future in France.

Revue neurologique·2015

The involvement of the trans-generational effect in the high incidence of the hydatidiform mole in Africa.

Placenta·2014

Precocious sexual signalling and mating in Anastrepha fraterculus (Diptera: Tephritidae) sterile males achieved through juvenile hormone treatment and protein supplements.

Bulletin of entomological research·2012

The presymptomatic phase of Huntington disease.

Revue neurologique·2012

[Critical approach to clinical trials: difficulties of such research in Lebanon].

Revue neurologique·2012

A one year prevalence study of schizophrenia on Reunion Island.

European psychiatry : the journal of the Association of European Psychiatrists·2009

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Annales de genetique·2004

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Annales de genetique·2004

Large duplication 4q25-q34 with mild clinical effect.

Annales de genetique·2004

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Annales de genetique·2004

Partial trisomy 8q and partial monosomy 18p: a case report.

Annales de genetique·2004

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Annales de genetique·2004

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Frontiers in genetics·2026

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

Frontiers in pediatrics·2026

[Association analysis between dystrophin gene polymorphism and non-syndromic cleft lip with or without cleft palate].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

Epilepsia·2026

Homozygous missense variants in CACNB4 underlie autosomal recessive epilepsy in two unrelated Pakistani consanguineous families.

Seizure·2026

Related Experiment Videos

[Genetic study of thanatophoric dwarfism]

Related Concept Videos

Guidelines for presymptomatic testing for Huntington's disease: past, present and future in France.

The involvement of the trans-generational effect in the high incidence of the hydatidiform mole in Africa.

Precocious sexual signalling and mating in Anastrepha fraterculus (Diptera: Tephritidae) sterile males achieved through juvenile hormone treatment and protein supplements.

The presymptomatic phase of Huntington disease.

[Critical approach to clinical trials: difficulties of such research in Lebanon].

A one year prevalence study of schizophrenia on Reunion Island.

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Large duplication 4q25-q34 with mild clinical effect.

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Partial trisomy 8q and partial monosomy 18p: a case report.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

[Association analysis between dystrophin gene polymorphism and non-syndromic cleft lip with or without cleft palate].

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

Homozygous missense variants in CACNB4 underlie autosomal recessive epilepsy in two unrelated Pakistani consanguineous families.

Related Experiment Videos

[Genetic study of thanatophoric dwarfism]

Related Concept Videos

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