Werdnig-Hoffmann disease on Reunion Island: a founder effect?

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Evidence for a major gene affecting the transition from normoglycaemia to hyperglycaemia in Psammomys obesus.

Heredity·2005

Distinctive genetic signatures in the Libyan Jews.

Proceedings of the National Academy of Sciences of the United States of America·2001

Intensive plasmapheresis for severe thrombotic thrombocytopenic purpura: long-term clinical outcome.

Journal of clinical apheresis·1997

Confidentiality in counseling for X-linked conditions.

Clinical genetics·1995

Hunter syndrome in Jews in Israel: further evidence for prenatal selection favoring the Hunter allele.

Human genetics·1991

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.

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

Clinical genetics·2026

Spinal Muscular Atrophy in Adult Neurology Services in India.

Clinical genetics·2026

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

Clinical genetics·2026

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

Clinical genetics·2026

First-stage assessment of AI-based anatomical measurement accuracy for the Cameriere European dental age estimation method.

International journal of legal medicine·2026

Taxonomic and distributional updates on the Arabian species of the genus Palpita Hübner, 1808 (Lepidoptera, Crambidae, Spilomelinae).

Biodiversity data journal·2026

The first human fossil from the Ruidera site (Castilla-La Mancha, Spain): A partial parietal and its implications for Middle Pleistocene hominin variability in Southern Europe.

Journal of human evolution·2026

The Ethnobotanical Heritage of Olea europaea L. in Italy: Continuity of a Millenary Mediterranean Tradition.

Plants (Basel, Switzerland)·2026

Archaeozoological Analysis of Bovine Proximal Phalanges from Medieval and Early Modern Wrocław.

Animals : an open access journal from MDPI·2026

Subtle cortical thinning in the temporal pole in middle-aged APOE-ε4 and PICALM (rs3851179) AA/AG carriers without dementia.

Neurobiology of aging·2026

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Werdnig-Hoffmann disease on Reunion Island: a founder effect?

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Defining definitions: a Delphi study to develop a core outcome set for conditions of severe maternal morbidity.

Evidence for a major gene affecting the transition from normoglycaemia to hyperglycaemia in Psammomys obesus.

Distinctive genetic signatures in the Libyan Jews.

Intensive plasmapheresis for severe thrombotic thrombocytopenic purpura: long-term clinical outcome.

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The first human fossil from the Ruidera site (Castilla-La Mancha, Spain): A partial parietal and its implications for Middle Pleistocene hominin variability in Southern Europe.

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Werdnig-Hoffmann disease on Reunion Island: a founder effect?

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