about
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutationsWNT5A mutations in patients with autosomal dominant Robinow syndromeA primer for morpholino use in zebrafish.Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compactionSMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome.Development and Notch signaling requirements of the zebrafish choroid plexus.TLR9 polymorphisms are associated with altered IFN-gamma levels in children with cerebral malariaMutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium.Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.Renal coloboma syndrome.Axenfeld-Rieger syndrome: new perspectives.Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.Analysis of archived newborn dried blood spots (DBS) identifies congenital cytomegalovirus as a major cause of unexplained pediatric sensorineural hearing loss.A Catalog of Genetic Syndromes in Childhood Cancer.Bilateral Labyrinthine and Internal Auditory Canal Enhancement in an Infant With Severe Labyrinthine Dysplasia: A Previously Unreported Phenomenon.Next generation sequencing in research and diagnostics of ocular birth defects.A translocated erythropoietin receptor gene in a human erythroleukemia cell line (TF-1) expresses an abnormal transcript and a truncated protein.Identification of two single nucleotide polymorphisms in exon 8 of PAX2.A novel microdeletion/microduplication syndrome of 19p13.13.Zebrafish: A Functional Refuge at the End of an Odyssey.Sharing GJB2/GJB6 genetic test information with family members.Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.Prelingual siblings of children with GJB2 hearing loss: issues to consider.Ethnic differences in parental perceptions of genetic testing for deaf infants.Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness.Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.Nonhatching Decapsulated Artemia Cysts As a Replacement to Artemia Nauplii in Juvenile and Adult Zebrafish Culture.A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.Genetic testing as part of the early hearing detection and intervention (EHDI) process.Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
P50
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P50
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հետազոտող
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Lisa A Schimmenti
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Lisa A Schimmenti
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Lisa A Schimmenti
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Lisa A Schimmenti
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Lisa A Schimmenti
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Lisa A Schimmenti
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Lisa A Schimmenti
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Lisa A Schimmenti
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Lisa A Schimmenti
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Lisa A Schimmenti
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P106
P108
P21
P31
P496
0000-0003-3154-4249