47, XY, t(9pplus;11qplus) in a mlae infant with multiple malformations

The role of genetic counseling in visually impaired adolescents.

The Journal of the Kentucky Medical Association·1994

Two-dimensional and deuterium-induced, differential-isotope-shift nuclear magnetic resonance characterization of potassium sucrose octasulfate and sucralfate.

Journal of pharmaceutical sciences·1992

Ivemark's "asplenia" syndrome: a single gene disorder.

Southern medical journal·1989

The physician under Public Law 99-457.

The Journal of the Kentucky Medical Association·1989

A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.

Journal of medical genetics·1989

Mild intellectual deficits in a child with 49,XXXXY.

Research in developmental disabilities·1988

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Clinical genetics·2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Clinical genetics·2026

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Clinical genetics·2026

Key factors for predicting outcomes one year after Meso-Rex bypass surgery and optimizing the surgical plan in children with extrahepatic portal vein obstruction.

European radiology·2026

Experiences and satisfaction with intensive community care services for children and adolescents with severe mental health disorders: a mixed-methods systematic review.

European child & adolescent psychiatry·2026

Perioperative Sleep Disturbances: A Prospective Cross-Sectional Study on Risk Factor Analysis and Predictive Model Development.

Journal of perianesthesia nursing : official journal of the American Society of PeriAnesthesia Nurses·2026

Effectiveness of Child Life Service in the Management of Pediatric Anxiety During the Perioperative Period: A Systematic Review and Meta-analysis.

Journal of perianesthesia nursing : official journal of the American Society of PeriAnesthesia Nurses·2026

Differences in Postoperative Pain Assessments Among Children, Mothers, and Nurses After Pediatric Day Surgery.

Journal of perianesthesia nursing : official journal of the American Society of PeriAnesthesia Nurses·2026

Advancing the Bacterial Hypothesis of Sudden Infant Death Syndrome (SIDS) and Sudden Unexplained Death in Childhood (SUDC): Evidence that Prone Sleeping Position Elevates Bacterial Titres in the Anterior Nares.

Journal of applied microbiology·2026

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47, XY, t(9pplus;11qplus) in a mlae infant with multiple malformations

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The role of genetic counseling in visually impaired adolescents.

Two-dimensional and deuterium-induced, differential-isotope-shift nuclear magnetic resonance characterization of potassium sucrose octasulfate and sucralfate.

Ivemark's "asplenia" syndrome: a single gene disorder.

The physician under Public Law 99-457.

A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.

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Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

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47, XY, t(9pplus;11qplus) in a mlae infant with multiple malformations

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