[Sex-linked mental retardation, peculiar face, macroorchidism, and weak zone on chromosome X]

Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

Human genetics·2016

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

Clinical genetics·2015

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.

European journal of medical genetics·2013

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

Clinical genetics·2012

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

Journal of medical genetics·2009

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

Human reproduction (Oxford, England)·2007

[Natal and neonatal teeth. Management].

Annales de pediatrie·1993

[Risks of failure of uncontrolled adoption of foreign children].

Annales de pediatrie·1993

[Hepatic hydatidosis and portal hypertension in children. Is it the Budd-Chiari syndrome?].

Annales de pediatrie·1993

[Neonatal testicular ischemic necrosis without torsion, associated with antithrombin III deficit].

Annales de pediatrie·1993

[Diffuse neonatal hemangiomatosis. A case with tetralogy of Fallot].

Annales de pediatrie·1993

[Fulminant pneumococcal septicemia in a splenectomized child despite vaccination and chemoprophylaxis: necessity for education of the entourage].

Annales de pediatrie·1993

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.

Cureus·2026

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

[Sex-linked mental retardation, peculiar face, macroorchidism, and weak zone on chromosome X]

Related Concept Videos

Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

[Natal and neonatal teeth. Management].

[Risks of failure of uncontrolled adoption of foreign children].

[Hepatic hydatidosis and portal hypertension in children. Is it the Budd-Chiari syndrome?].

[Neonatal testicular ischemic necrosis without torsion, associated with antithrombin III deficit].

[Diffuse neonatal hemangiomatosis. A case with tetralogy of Fallot].

[Fulminant pneumococcal septicemia in a splenectomized child despite vaccination and chemoprophylaxis: necessity for education of the entourage].

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

[Sex-linked mental retardation, peculiar face, macroorchidism, and weak zone on chromosome X]

Related Concept Videos

Related Articles