Formal genetics in humans: mendelian and nonmendelian inheritance

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.

Clinical genetics·2012

Motivations and perceptions of early adopters of personalized genomics: perspectives from research participants.

Public health genomics·2011

Disorders of vascular fragility: implications for active patients.

The Physician and sportsmedicine·2010

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

Journal of medical genetics·2009

Attitudes antecedent to transition to self-management of a chronic genetic disorder.

Clinical genetics·2008

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Human mutation·2007

Cytokine circuits in brain. Implications for AIDS dementia complex.

Research publications - Association for Research in Nervous and Mental Disease·1994

HIV-related depression.

Research publications - Association for Research in Nervous and Mental Disease·1994

Whole-genome and pan-genome analyses reveal genomic differences among nontypeable Haemophilus influenzae isolates from bronchiectasis, community-acquired pneumonia, and chronic obstructive pulmonary disease.

Frontiers in cellular and infection microbiology·2026

Characterisation of a Novel HLA-DQA1 Allele by Next Generation Sequencing: HLA-DQA1*01:03:13.

HLA·2026

CLUAP1 variants cause non-syndromic retinitis pigmentosa.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2026

Molecular characterization of a rare norovirus GII.8[P8] strain detected during pediatric acute gastroenteritis surveillance in Harbin, China.

Virus genes·2026

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

American journal of medical genetics. Part A·2026

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants: A Case Report.

Neurology. Genetics·2026

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Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.

Motivations and perceptions of early adopters of personalized genomics: perspectives from research participants.

Disorders of vascular fragility: implications for active patients.

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

Attitudes antecedent to transition to self-management of a chronic genetic disorder.

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Whole-genome and pan-genome analyses reveal genomic differences among nontypeable Haemophilus influenzae isolates from bronchiectasis, community-acquired pneumonia, and chronic obstructive pulmonary disease.

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High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

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