Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship

Newborn screening for cystic fibrosis: Educational implications.

Journal of genetic counseling·2013

Familial colloid cysts of the third ventricle.

Clinical genetics·2004

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

Clinical genetics·2004

Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome.

Clinical genetics·2003

PAK3 mutation in nonsyndromic X-linked mental retardation.

Nature genetics·1998

Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

Journal of medical genetics·1997

Paediatric familial hypercholesterolaemia in Australia: a real-world registry study.

Archives of disease in childhood·2026

Quality and concordance of international paediatric sepsis guidelines: a cross-sectional appraisal from the SENTINEL International study.

Archives of disease in childhood·2026

Clinically significant night-to-night variability in overnight oximetry screening for obstructive sleep apnoea in children with Down syndrome: a retrospective review of screening data.

Archives of disease in childhood·2026

Secondary skeletal surveys yield significant additional injuries: a retrospective review.

Archives of disease in childhood·2026

Caring for children with functional neurological disorders in the emergency department.

Archives of disease in childhood·2026

Texture and nutrient content of commercial baby foods supplied in spouted pouches, compared to other packaging.

Archives of disease in childhood·2026

Adult-Onset Alagille Syndrome Presenting With Recurrent Cholestasis: A Rare Genetic Diagnosis Confirmed by Whole Exome Sequencing.

Cureus·2026

Genomic meta-analyses of binge-eating behavior and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

Nature. Mental health·2026

The genome sequence of the Bluebell moth, Eana incanana (Stephens, 1852) (Lepidoptera: Tortricidae).

Wellcome open research·2026

Co-Heredity of (-α)20.5 Deletion and IVS I-1 G > A (HBB: C.92 + 1 G > A) Mutations in a Pediatric Patient: A Cause of Moderate Anemia Phenotype?

Hemoglobin·2026

Large-scale admixture mapping in the All of Us Research Program improves the characterization of cross-population phenotypic differences.

Nature communications·2026

Accelerated Aging Fontan Phenotype Is Associated With Systemic Right Ventricles and Adverse Hemodynamics.

Journal of the American Heart Association·2026

Related Experiment Videos

Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship

Related Concept Videos

Newborn screening for cystic fibrosis: Educational implications.

Familial colloid cysts of the third ventricle.

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome.

PAK3 mutation in nonsyndromic X-linked mental retardation.

Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

Paediatric familial hypercholesterolaemia in Australia: a real-world registry study.

Quality and concordance of international paediatric sepsis guidelines: a cross-sectional appraisal from the SENTINEL International study.

Clinically significant night-to-night variability in overnight oximetry screening for obstructive sleep apnoea in children with Down syndrome: a retrospective review of screening data.

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Texture and nutrient content of commercial baby foods supplied in spouted pouches, compared to other packaging.

Adult-Onset Alagille Syndrome Presenting With Recurrent Cholestasis: A Rare Genetic Diagnosis Confirmed by Whole Exome Sequencing.

Genomic meta-analyses of binge-eating behavior and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

The genome sequence of the Bluebell moth, Eana incanana (Stephens, 1852) (Lepidoptera: Tortricidae).

Co-Heredity of (-α)20.5 Deletion and IVS I-1 G > A (HBB: C.92 + 1 G > A) Mutations in a Pediatric Patient: A Cause of Moderate Anemia Phenotype?

Large-scale admixture mapping in the All of Us Research Program improves the characterization of cross-population phenotypic differences.

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Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship

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