Results 91 to 100 of about 64,652,082 (128)

Treacher Collins syndrome: A comprehensive review on clinical features, diagnosis, and management. [PDF]

J Family Med Prim Care
Nassar JY, Kefi F, Alhartani MM, Sultan AA, Al-Khatib T, Safdar OY.   +5 more
europepmc   +1 more source

Genotype-phenotype associations in microtia: a systematic review. [PDF]

Orphanet J Rare Dis
Wahdini SI, Idamatussilmi F, Pramanasari R, Prawoto AN, Wungu CDK, Putri IL, Gunadi.   +6 more
europepmc   +1 more source

Shunt Complications in Syndromic versus Non-Syndromic Pediatric Hydrocephalus: A Propensity-Matched Multicenter Analysis of 35,234 Patients.

Pediatr Neurosurg
Buccilli B, Hussein A, Taghlabi KM, Mitchell M, Haddad Santos D, Bertani R, Paiva W, Anghinah R, Faraji AH.   +8 more
europepmc   +1 more source

eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy. [PDF]

J Neurodev Disord
Beltrán-Corbellini Á, Valls-Carbó A, Toledano R, García-Morales I, Sánchez-Miranda Román I, Gil-Nagel A.   +5 more
europepmc   +1 more source

Addressing the tissue specificity of U5 snRNP spliceosomopathies. [PDF]

Front Cell Dev Biol
Kemal RA, O'Keefe RT.
europepmc   +1 more source

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

, 2023
Huang, Lijia,; Vanstone, Megan R,; Hartley, Taila,; Osmond, Matthew,; Barrowman, Nick,; Allanson, Judith,; Baker, Laura,; Dabir, Tabib A,; Dipple, Katrina M,; Dobyns, William B,; Estrella, Jane,; Faghfoury, Hanna,; Favaro, Francine P,; Goel, Himanshu,; Gregersen, Pernille A,; Gripp, Karen W,; Grix, Art,; Guion‐Almeida, Maria‐Leine,; Harr, Margaret H,; Hudson, Cindy,; Hunter, Alasdair GW,; Johnson, John,; Joss, Shelagh K,; Kimball, Amy,; Kini, Usha,; Kline, Antonie D,; Lauzon, Julie,; Lildballe, Dorte L,; López‐González, Vanesa,; Martinezmoles, Johanna,; Meldrum, Cliff,; Mirzaa, Ghayda M,; Morel, Chantal F,; Morton, Jenny EV,; Pyle, Louise C,; Quintero‐Rivera, Fabiola,; Richer, Julie,; Scheuerle, Angela E,; Schönewolf‐Greulich, Bitten,; Shears, Deborah J,; Silver, Josh,; Smith, Amanda C,; Temple, I Karen,; Center, UCLA Clinical Genomics,; de Kamp, Jiddeke M,; Dijk, Fleur S,; Vandersteen, Anthony M,; White, Sue M,; Zackai, Elaine H,; Zou, Ruobing,; Consortium, Care4Rare Canada,; Bulman, Dennis E,; Boycott, Kym
core  

Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing. [PDF]

Int J Mol Sci
Antal G, Zsigmond A, Till Á, Szabó A, Maász A, Bene J, Hadzsiev K.   +6 more
europepmc   +1 more source

Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families. [PDF]

Int J Mol Sci
Camarillo-Benitez S, Mendez-Catala CF, Chima-Galan MDC, Rivera-Yañez CR, Negrete-Torres N, Arrieta TA, Alcantara-Torres JR, Méndez-Cruz AR, Mendoza-Ramos MI, Tapia-Soto NI, Garrido E, Pedroza-Gonzalez A, Garcia-Romo GS, Reyes-Reali J, Soto-Rojas LO, Pozo-Molina G, Amato D.   +16 more
europepmc   +1 more source

Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing. [PDF]

Cell Mol Life Sci
Banik P, Staněk D.
europepmc   +1 more source