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2012Journal (source)Am J Hum GenetMainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2013Journal (source)Clin Genet
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
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2010Journal (source)Nat Genet
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat...
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2009Journal (source)Hum Mutat
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
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2016Journal (source)J Clin Invest
Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwar...
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2012Journal (source)Hum Mol Genet
An activating Fgfr3 mutation affects trabecular bone formation via a paracrin...
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2020Journal (source)Genet Med
Phenotypic spectrum and transcriptomic profile associated with germline varia...
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2020Journal (source)Brain
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit...
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2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2016Journal (source)Am J Hum Genet
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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2015Journal (source)Am J Hum Genet
Submicroscopic deletions at 13q32.1 cause congenital microcoria.
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2012Journal (source)Mol Ther Nucleic Acids
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
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2013Journal (source)Am J Hum Genet
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
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2012Journal (source)Nat Genet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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2015Journal (source)Eur J Hum Genet
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...
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2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2004Journal (source)Am J Hum Genet
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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2002Journal (source)Am J Hum Genet
The ABCA4 gene in autosomal recessive cone-rod dystrophies.
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2015Journal (source)Mol Ther Nucleic Acids
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Spl...
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2012Journal (source)Mol Ther Nucleic Acids
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Co...
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2012Journal (source)Nat Genet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2003Journal (source)Adv Exp Med Biol
Leber congenital amaurosis--genotyping required for possible inclusion in a c...
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2004Journal (source)Am J Hum Genet
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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2021Journal (source)Blood
Defective palmitoylation of transferrin receptor triggers iron overload in Fr...
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2018Journal (source)J Allergy Clin Immunol
Epithelial barrier dysfunction in desmoglein-1 deficiency.
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2017Journal (source)Nat Med
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation...
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2017Journal (source)Am. J. Hum. Genet.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ...
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2017Journal (source)Eur. J. Hum. Genet.
High incidence and variable clinical outcome of cardiac hypertrophy due to AC...
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2018Journal (source)J. Med. Genet.
No correlation between mtDNA amount and methylation levels at the CpG island ...
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2019Journal (source)J. Med. Genet.
Segregation of mitochondrial DNA mutations in the human placenta: implication...
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2019Journal (source)Hum. Mutat.
Inhibition of mitochondrial translation in fibroblasts from a patient express...
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2018Journal (source)Am. J. Hum. Genet.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Senso...
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2019Journal (source)Nature
Mitochondrial double-stranded RNA triggers antiviral signalling in humans.
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2018Journal (source)Am. J. Hum. Genet.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati...
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2020Journal (source)Hum. Mol. Genet.
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein...
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2020Journal (source)Hum. Mutat.
Clinical, neuroimaging and biochemical findings in patients and patient fibro...
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Journal (source)Journal of biomedical informatics
A Clinician Friendly Data Warehouse Oriented Toward Narrative Reports: Dr. Wa...
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2018Journal (source)Nat Commun.
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2018Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2014Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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2018Journal (source)J Med Genet
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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2020Journal (source)Mol Autism
Impact of on-site clinical genetics consultations on diagnostic rate in child...
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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2018Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2014Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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2018Journal (source)J Med Genet
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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2011Journal (source)Nat Genet
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syn...
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2013Journal (source)Am J Hum Genet
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asp...
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2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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2014Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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2012Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
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2011Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.