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Human Molecular Genetics

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

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Nature Communications

Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation

Paul Batstone, Sheila A Simpson, David T. Bonthron, +6

American Journal of Medical Genetics Part A

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Expanding the phenome and variome of skeletal dysplasia

Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, +53

Genetics in Medicine

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Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

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Molecular Syndromology

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A mother with variant Turner syndrome and two daughters with trisomy X: a case report

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Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges

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Journal of Pediatric Endocrinology and Metabolism

Treatment of Lesch–Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl

Bee C. Chen, Shanti Balasubramaniam, Ivan McGown, +5

Brain and Development

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Clinical features and respiratory complications in Myhre syndrome

Ruth McGowan, Ramkumar Gulati, P.M. McHenry, +9

European Journal of Medical Genetics

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