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Publications by Marianne Cameron

An Autosomal Recessive Form of Alagille-Like Syndrome That Is Not Linked to JAG1

Genetics in Medicine

English

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Popliteal Pterygium Syndrome. Evidence for a Severe Autosomal Recessive Form.

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Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

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New Autosomal Recessive Faciodigitogenital Syndrome.

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Autosomal Recessive Distal Osteolysis Syndrome

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Conotruncal Heart Defect/Microphthalmia Syndrome: Delineation of an Autosomal Recessive Syndrome.

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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

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Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

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Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

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Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient With Alagille Syndrome

Case Reports in Pediatrics

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