Results 101 to 110 of about 500 (134)

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

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

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

Novel genetic contributions in patients with orofacial cleft anomalies [PDF]

, 2020
Alharatani, Reham
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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

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

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update [PDF]

Abdelmoity, Ala-Mello, Aleksic, Ana Beleza-Meireles, Balci, Balci, Ballesta-Martínez, Bock, Boles, Brun, Burck, Butts, Callier, Chai, Cohen, Cohen, Cordier, Cousley, Dabir, de Ravel, Descartes, Digilio, Ebbesen, Edelmann, Engiz, Ewart-Toland, Figueroa, Fischer, Garavelli, Gimelli, Goodin, Gordon, Gorlin, Grabb, Gómez García, Haberland, Hartsfield, Heike, Hennekam, Herman, Hodes, Huang, Huang, Jill Clayton-Smith, Johnson, Jorge M Saraiva, Josifova, Katsanis, Kaye, Kelberman, Kobrynski, Kohlhase, Kumar, Ladekarl, Lalani, Lawson, Luquetti, Mansour, Mastroiacovo, May Tassabehji, McDermid, Melnick, Minoux, Northup, Ou, Parry, Pierpont, Poonawalla, Poswillo, Quintero-Rivera, Rao, Robinson, Roesch, Rollnick, Rollnick, Rollnick, Rollnick, Rooryck, Rooryck, Rooryck, Rosias, Ryan, Shokeir, Smith, Soltan, Stanojević, Stoll, Szabo-Rogers, Tan, Tasse, Tasse, Tasse, Torti, Tsai, Van Allen, Vendramini-Pittoli, Verhagen, Verloes, Voigt, Werler, Wieczorek, Wilson, Xu   +102 more
core   +1 more source

Advances in prenatal ultrasound diagnosis of fetal tympanic ring anomalies. [PDF]

Front Med (Lausanne)
Zhang H, Liao R, Li Y, Huang F, Li L, Lyu G.   +5 more
europepmc   +1 more source

APPLICATION OF ADVANCED DNA ANALYSIS TECHNOLOGIES FOR THE IDENTIFICATION OF NEW ETIOPATHOGENETIC MECHANISMS AND MOLECULAR PROFILING IN GENOMIC MEDICINE [PDF]

DE LUCA, CHIARA
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