Autosomal dominant inheritance in Larsen's syndrome

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.

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A recombinant-based feline immunodeficiency virus antibody enzyme-linked immunosorbent assay.

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A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.

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Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. II. Invasive epithelial ovarian cancers in white women. Collaborative Ovarian Cancer Group.

American journal of epidemiology·1992

Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. III. Epithelial tumors of low malignant potential in white women. Collaborative Ovarian Cancer Group.

American journal of epidemiology·1992

Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. I. Methods. Collaborative Ovarian Cancer Group.

American journal of epidemiology·1992

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

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Complex epilepsy phenotype associated with chromosome 2q24.2-q24.3 deletion involving sodium channel gene cluster.

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Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

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Autosomal dominant inheritance in Larsen's syndrome

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A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.

A recombinant-based feline immunodeficiency virus antibody enzyme-linked immunosorbent assay.

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.

Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. II. Invasive epithelial ovarian cancers in white women. Collaborative Ovarian Cancer Group.

Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. III. Epithelial tumors of low malignant potential in white women. Collaborative Ovarian Cancer Group.

Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. I. Methods. Collaborative Ovarian Cancer Group.

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

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

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

Spinal Muscular Atrophy in Adult Neurology Services in India.

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.

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Autosomal dominant inheritance in Larsen's syndrome

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