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Epileptic phenotypes in children with respiratory chain disorders.

Epilepsia, July 2010, Vol.51(7), pp.1225-1235 [Peer Reviewed Journal]

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Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial aggregation in schizophrenia spectrum disorders

Schizophrenia Research, July 2018, Vol.197, pp.583-584 [Peer Reviewed Journal]

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Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

BBA - Molecular Basis of Disease, August 2013, Vol.1832(8), pp.1304-1312 [Peer Reviewed Journal]

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Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

The Journal of Allergy and Clinical Immunology, December 2017, Vol.140(6), pp.1671-1682.e2 [Peer Reviewed Journal]

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The 3M syndrome

Best Practice & Research Clinical Endocrinology & Metabolism, 2011, Vol.25(1), pp.143-151 [Peer Reviewed Journal]

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Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia

Indian Journal of Medical Research, 2016, Vol.143(1), p.43-48 [Peer Reviewed Journal]

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

The American Journal of Human Genetics, 05 May 2016, Vol.98(5), pp.993-1000 [Peer Reviewed Journal]

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Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

The American Journal of Human Genetics, 02 November 2012, Vol.91(5), pp.912-918 [Peer Reviewed Journal]

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WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

The American Journal of Human Genetics, 07 November 2013, Vol.93(5), pp.926-931 [Peer Reviewed Journal]

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Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

The American Journal of Human Genetics, 10 June 2011, Vol.88(6), pp.788-795 [Peer Reviewed Journal]

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  1. Munnich, Arnold
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