Results 71 to 80 of about 64,652,082 (128)

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report

, 2015
CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.CASE REPORT: Our patient was a seven-year-old white ...
Rafael Fabiano Machado Rosa (6721697), Korine Camargo (12799411), Paulo Ricardo Gazzola Zen (6721709), Flávia Enk (12799408), Rosana Cardoso Manique Rosa (10445286), Giovanni Marco Travi (12799414), Carla Graziadio (10445289), Vinicius Freitas de Mattos (10445402), André Freitas (3320523)   +8 more
core   +1 more source

Esophageal Atresia With or Without Tracheoesophageal Fistula: Comorbidities, Genetic Evaluations, and Neonatal Outcomes. [PDF]

Cureus, 2023
Khattar D, Suhrie KR.
europepmc   +1 more source

First case report of Nager syndrome patient from Georgia. [PDF]

SAGE Open Med Case Rep, 2022
Tkemaladze T, Bregvadze K, Kvaratskhelia E, Kapoor MA, Orjonikidze N, Abzianidze E.   +5 more
europepmc   +1 more source

Neural Crest Development in Health and Disease. [PDF]

Int J Mol Sci, 2022
Pilon N.
europepmc   +1 more source

Prenatal features of mandibulofacial dysostosis Guion-Almeida Type. [PDF]

J Med Life, 2021
Dragoi V, Nedelea F, Gica N, Botezatu R, Peltecu G, Panaitescu AM.   +5 more
europepmc   +1 more source

Disostosis mandibulofacial (síndrome de treacher collins). Reporte de un caso

, 2019
La disostosis mandibulofacial o síndrome de TreacherCollins.es un rarotrastornocraneofacial congénito de herencia autosómica dominante. A pesar que su expresión fenotípica es muy variable, el diagnóstico es fundamentalmente clínico.
Piedra Bravo, Yadira Lucía, Lucero Quezada, Christian Xavier   +1 more
core  

Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]

Appl Clin Genet
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A.   +8 more
europepmc   +1 more source

Treacher Collins Syndrome: Genetics, Clinical Features and Management. [PDF]

Genes (Basel), 2021
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R.   +3 more
europepmc   +1 more source

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D. [PDF]

Mol Genet Genomic Med
Nevondwe P, Mudau M, Seymour H, Kerr R, Lombard Z, Krause A, Carstens N.   +6 more
europepmc   +1 more source

Signalling Pathways and Mechanical Forces Interact in Craniofacial Development and Homeostasis. [PDF]

Int Dent J
Chen Y, Feng X, Wu H, Duan Y, Han Y, Yu M.   +5 more
europepmc   +1 more source