Verification of Lyon's hypothesis in fragile X carriers

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Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y-bearing mosaic Turner syndrome.

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Frequency of deletion 508 among Irish cystic fibrosis patients.

Human genetics·1990

Sequential sampling in clinical cytogenetics: a quality control viewpoint.

Journal of medical genetics·1988

A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases.

American journal of medical genetics·1986

The fragile X syndrome: the patients and their chromosomes.

Journal of medical genetics·1984

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

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TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

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The Russian FSHD registry: a first look at the cohort.

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Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

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Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

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Physical review. E·2026

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Physical review letters·2026

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Physical review letters·2026

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The Review of scientific instruments·2026

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Comparative Study of FISH, PCR and Cytogenetics on 25 Patients Submitted to Bone Marrow Transplantation (BMT) for Chronic Myelogenous Leukemia (CML); Which Tests can we Use in Routine Analysis Post BMT?

Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y-bearing mosaic Turner syndrome.

Frequency of deletion 508 among Irish cystic fibrosis patients.

Sequential sampling in clinical cytogenetics: a quality control viewpoint.

A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases.

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