A de novo translocation t(6q+; 15q-) in a boy with trisomy 21

Histamine and Seizures : Implications for the Treatment of Epilepsy.

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Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.

Neurology·2012

Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extraaxial space.

Neuropediatrics·2011

The cytokine and chemokine profiles in rhabdomyolysis in a patient with Gaucher disease type II.

Neuropediatrics·2010

Influence of the cyclooctadepsipeptides PF1022A and PF1022E as natural products on the design of semi-synthetic anthelmintics such as emodepside.

Parasitology research·2005

Influence of age and duration of infection on bacterial load and immune responses to Helicobacter pylori infection in a murine model.

Clinical and experimental immunology·2004

Gene-deletion and carrier detections, and prenatal diagnosis of Duchenne muscular dystrophy by analysis of the dystrophin gene amplified by polymerase chain reaction.

Jinrui idengaku zasshi. The Japanese journal of human genetics·1991

Rapid detection of a point mutation in thyroid-stimulating hormone beta-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency.

Jinrui idengaku zasshi. The Japanese journal of human genetics·1991

Biochemical characteristics of glucose-6-phosphate dehydrogenase variants among the Malays of Singapore with report of a new non-deficient (GdSingapore) and three deficient variants.

Jinrui idengaku zasshi. The Japanese journal of human genetics·1991

Similar proportion of sporadic cases in cytochrome b558 negative chronic granulomatous disease and Duchenne muscular dystrophy.

Jinrui idengaku zasshi. The Japanese journal of human genetics·1991

The MspI restriction fragment length polymorphism of human aldolase B gene on chromosome 9q21.3-q22.2.

Jinrui idengaku zasshi. The Japanese journal of human genetics·1991

The prevalence at birth of cogenital malformations at a maternity hospital in Osaka City, 1948-1990.

Jinrui idengaku zasshi. The Japanese journal of human genetics·1991

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

Clinical genetics·2026

Relationship between serum albumin and blood eosinophils in adolescents with allergic triad: A Cross-sectional study from NHANES.

Medicine·2026

Attention-Deficit/Hyperactivity Disorder Symptoms in School-Aged Children with a History of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Denitis Syndrome: A Comparative Evaluation with Healthy Peers.

Turkish archives of pediatrics·2026

Association between mental well-being, body composition, and physical activity among adolescents in the Eastern Cape, South Africa.

Journal of child and adolescent mental health·2026

Outcomes of Surgical Interventions in Children With Fibrous Dysplasia/McCune-Albright Syndrome.

Journal of pediatric orthopedics·2026

Opioid Use Disorder and Evidence-Based Care Among Medicaid-Enrolled Youths.

JAMA network open·2026

Related Experiment Videos

A de novo translocation t(6q+; 15q-) in a boy with trisomy 21

Related Concept Videos

Histamine and Seizures : Implications for the Treatment of Epilepsy.

Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.

Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extraaxial space.

The cytokine and chemokine profiles in rhabdomyolysis in a patient with Gaucher disease type II.

Influence of the cyclooctadepsipeptides PF1022A and PF1022E as natural products on the design of semi-synthetic anthelmintics such as emodepside.

Influence of age and duration of infection on bacterial load and immune responses to Helicobacter pylori infection in a murine model.

Gene-deletion and carrier detections, and prenatal diagnosis of Duchenne muscular dystrophy by analysis of the dystrophin gene amplified by polymerase chain reaction.

Rapid detection of a point mutation in thyroid-stimulating hormone beta-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency.

Biochemical characteristics of glucose-6-phosphate dehydrogenase variants among the Malays of Singapore with report of a new non-deficient (GdSingapore) and three deficient variants.

Similar proportion of sporadic cases in cytochrome b558 negative chronic granulomatous disease and Duchenne muscular dystrophy.

The MspI restriction fragment length polymorphism of human aldolase B gene on chromosome 9q21.3-q22.2.

The prevalence at birth of cogenital malformations at a maternity hospital in Osaka City, 1948-1990.

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

Relationship between serum albumin and blood eosinophils in adolescents with allergic triad: A Cross-sectional study from NHANES.

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Association between mental well-being, body composition, and physical activity among adolescents in the Eastern Cape, South Africa.

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A de novo translocation t(6q+; 15q-) in a boy with trisomy 21

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