Pages that link to "Q2863363"

The following pages link to Arnold Munnich (Q2863363):

Displaying 50 items.

• Yves Agid (Q3573439) (← links)
• IHU de Strasbourg (Q16508358) (← links)
• MRI findings in 77 children with non-syndromic autistic disorder (Q21143872) (← links)
• Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis (Q21144954) (← links)
• Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location (Q22253481) (← links)
• A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency (Q22253915) (← links)
• Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome (Q22306504) (← links)
• TCTN3 mutations cause Mohr-Majewski syndrome (Q24295300) (← links)
• The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia (Q24296652) (← links)
• Mutation in myosin heavy chain 6 causes atrial septal defect (Q24296801) (← links)
• Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse) (Q24297313) (← links)
• Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome (Q24297880) (← links)
• Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis (Q24299932) (← links)
• The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation (Q24300345) (← links)
• Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy (Q24302105) (← links)
• Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia (Q24307279) (← links)
• Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency (Q24308632) (← links)
• CHARGE syndrome: report of 47 cases and review (Q24309120) (← links)
• Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation (Q24309324) (← links)
• Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) (Q24311237) (← links)
• Mutations of the TWIST gene in the Saethre-Chotzen syndrome (Q24311736) (← links)
• Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations (Q24313632) (← links)
• Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mapping (Q24315963) (← links)
• Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency (Q24316130) (← links)
• SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) (Q24317232) (← links)
• Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis (Q24317477) (← links)
• ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation (Q24320159) (← links)
• Sequence and structure of the human OXA1L gene and its upstream elements (Q24321495) (← links)
• Prenatal cortical hyperostosis with COL1A1 gene mutation (Q24321500) (← links)
• Mutations of the RET proto-oncogene in Hirschsprung's disease (Q24324643) (← links)
• Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures (Q24339517) (← links)
• Site specific screening for point mutations in ornithine transcarbamylase deficiency (Q24514971) (← links)
• Clinical and genetic heterogeneity of hypochondroplasia (Q24517916) (← links)
• Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency (Q24533500) (← links)
• The molecular basis of X-linked spondyloepiphyseal dysplasia tarda (Q24533523) (← links)
• Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis (Q24533664) (← links)
• ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome (Q24534081) (← links)
• Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain (Q24540201) (← links)
• USH1A: chronicle of a slow death (Q24540598) (← links)
• Dietary and hormonal regulation of aldolase B gene expression (Q24564013) (← links)
• Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature (Q24615911) (← links)
• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes (Q24625476) (← links)
• Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy (Q24628708) (← links)
• Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans (Q24635323) (← links)
• DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III (Q24645415) (← links)
• CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation (Q24650658) (← links)
• CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures (Q24655437) (← links)
• Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders (Q24669541) (← links)
• Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome (Q24672488) (← links)
• Genotype-phenotype correlation in hereditary multiple exostoses (Q24672770) (← links)