Genodermatoses

Results: 645



#Item
581Syndromes / Hay–Wells syndrome / TP63 / Rapp–Hodgkin syndrome / Ectodermal dysplasia / Ectrodactyly / Universidade Estadual Paulista Júlio de Mesquita Filho / Ectrodactyly–ectodermal dysplasia–cleft syndrome / Limb–mammary syndrome / Health / Genodermatoses / Rare diseases

Revista2Vol89ingles2_Layout 1

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Source URL: www.ncbi.nlm.nih.gov

Language: English
582Rare diseases / Treacher Collins syndrome / Franceschetti–Klein syndrome / Treacle protein / Micrognathism / Miller syndrome / Microtia / Cleft lip and palate / Choanal atresia / Health / Syndromes / Genodermatoses

16 (2), 2013 l DOI: [removed]bjmg[removed]

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583Genodermatoses / Pancreas disorders / Pediatrics / Sweat test / Cystic fibrosis / Acrodermatitis enteropathica / Kwashiorkor / Biotin / Baldness / Health / Medicine / Nutrition

16 (2), 2013 l DOI: [removed]bjmg[removed]

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584Genetic genealogy / Neuro-cardio-facial-cutaneous syndromes / Syndromes / Neurological disorders / Developmental neuroscience / LEOPARD syndrome / Neurofibromatosis type I / Noonan syndrome / Neurofibroma / Medicine / Health / Genodermatoses

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

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585Health / CVG / Scalp / Cutis laxa / Primary hypertrophic osteoathropathy / Cutis / Dermis / Genodermatoses / Anatomy / Cutis verticis gyrata

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586Syndromes / Proteins / Genes / Werner syndrome ATP-dependent helicase / RecQ helicase / Genodermatoses / Rare diseases / Helicase / Chromosome 8 / Biology / Health / Genetics

Results at seven years after the use of intracamerular cefazolin as an endophthalmitis prophylaxis in cataract surgery

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587Genodermatoses / Kabuki syndrome / Congenital heart defect / Haploinsufficiency / Bronchomalacia / Bronchus / Health / Rare diseases / Syndromes

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

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Source URL: www.ncbi.nlm.nih.gov

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588Integral membrane proteins / Connexin / Deafness / GJB2 / Gap junction / GJB6 / Connexon / GJB3 / Chromosome 13 / Biology / Cell biology / Genodermatoses

A Novel Homozygous Mutation in the EC1/EC2 Interaction Domain of the Gap Junction Complex Connexon 26 Leads to Profound Hearing Impairment

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589Genetics / Noonan syndrome / Cardiofaciocutaneous syndrome / SOS1 / PTPN11 / KRAS / Costello syndrome / BRAF / LEOPARD syndrome / Medicine / Health / Genodermatoses

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

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Source URL: www.ncbi.nlm.nih.gov

Language: English
590Diabetes / Chromosomal abnormalities / Cytogenetics / 1p36 deletion syndrome / Prader–Willi syndrome / Monosomy / Hyperinsulinism / Contiguous gene syndrome / Metabolic syndrome / Health / Syndromes / Genodermatoses

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

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Source URL: www.ncbi.nlm.nih.gov

Language: English
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