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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Genetics in medicine : official journal of the American College of Medical Genetics, January 2020, Vol.22(1), pp.181-188 [Peer Reviewed Journal]

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Expanding the clinical spectrum of MTTF mutations

Molecular Genetics and Metabolism Reports, 01 December 2019, Vol.21 [Peer Reviewed Journal]

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Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF

Molecular Genetics and Metabolism Reports, December 2019, Vol.21 [Peer Reviewed Journal]

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Cytochrome c oxidase deficiency caused by biallelic mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

Molecular genetics and metabolism reports, December 2019, Vol.21, pp.100528 [Peer Reviewed Journal]

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Expanding the clinical spectrum of MTTF mutations

Molecular Genetics and Metabolism Reports, December 2019, Vol.21 [Peer Reviewed Journal]

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Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin–Siris syndrome

Psychiatric Genetics, 2019, Vol.29(6), pp.237-242 [Peer Reviewed Journal]

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Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Human mutation, November 3, 2019 [Peer Reviewed Journal]

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Vingt ans de consultations de génétique clinique sur site dans les hôpitaux de jour pour les personnes atteintes de troubles du spectre autistique de la région parisienne.
Twenty years of on-site clinical genetics consultations for people with ASD

Medecine sciences : M/S, November 2019, Vol.35(11), pp.843-851 [Peer Reviewed Journal]

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Authors' reply re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.

BJOG : an international journal of obstetrics and gynaecology, Vol.126(11), p.1401 [Peer Reviewed Journal]

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Authors' reply re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre

BJOG : an international journal of obstetrics and gynaecology, October 2019, Vol.126(11), pp.1401 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Munnich, Arnold
  2. Munnich, A
  3. Lyonnet, Stanislas
  4. Rötig, Agnès
  5. Cormier-Daire, Valérie

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