Results 151 to 160 of about 22,740 (195)

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

A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières syndrome type 5: a case report and literature review. [PDF]

Front Pediatr
Yousaf H, Zonash Z, Manzoor J, Ali A, Khalid LB, Zafar G, Ali S, Toft M, Fatima A, Iqbal Z.   +9 more
europepmc   +1 more source

Zika Virus and Congenital Zika Syndrome: Special Issue Editorial. [PDF]

Viruses
da Silva Pone MV, Pone SM.
europepmc   +1 more source

Renpenning syndrome caused by the c.459_462delAGAG mutation in PQBP1: a case report and literature review. [PDF]

Front Genet
Zhang M, Liu M, Wang R, Ma F, Mao G.
europepmc   +1 more source

Nabais Sá-de Vries Syndrome Type 1 in a Mexican Girl: A Case Report. [PDF]

Cureus
Olivares-Huerta O, Castro-Coyotl DM, Crisanto-López IE, Cervantes-Larios J, Ochoa-Precoma R, Morales-López BF, Trejo-Toscano IA, Juárez-Melchor D.   +7 more
europepmc   +1 more source

A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival. [PDF]

Neurology
Savvidou A, Sofou K, Thunström S, Ygberg S, Eklund EA, Naess K, Kollberg G, Darin N.   +7 more
europepmc   +1 more source

Characterization of 843 children with Zika-related microcephaly in the first three years of life: An individual participant data meta-analysis of 12 cohorts in the Zika Brazilian Cohorts consortium. [PDF]

PLOS Glob Public Health
Miranda-Filho DB, Ximenes RAA, Ramos Montarroyos U, Rosa Abtibol-Bernardino M, Brickley EB, Turchi Martelli CM, Cunha Rodrigues L, Velho Barreto de Araújo T, Ventura LO, Leal MC, Neves Santos D, Marques Dos Santos L, Monteiro Santos L, Rabelo Gomes M, de Siqueira IC, Serra L, Rios DPMS, Carvalho A, Silva AM, Silva Sousa P, Ribeiro MC, Campos MG, Passos SD, Bertozzi APP, Gazeta RE, Catalan DT, Queiroz Gurgel R, Lopes ASA, Medeiros AMC, Brasil P, Nielsen-Saines K, Vasconcelos Z, Zin AA, Mussi-Pinhata MM, Negrini SFBM, Negrini BVM, Caldas CACT, Vivacqua D, Coelho BP, Peixoto LFAA, Bôtto-Menezes C, Benzecry SG, de Oliveira CS, Paschoal JKSF, Serra EMF, Gomes LTS, Moreira ME, Hofer CB, Zika Brazilian Cohorts Consortium (ZBC Consortium).   +48 more
europepmc   +1 more source

Novel nonsense variant of KIF11 in a patient with MCLMR. [PDF]

Hum Genome Var
Ozaki Y, Yokoi K, Nakamura Y, Fujimoto M, Ishioka R, Kasukabe K, Kato T, Saitoh S.   +7 more
europepmc   +1 more source

Roles of insulin-like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome. [PDF]

Biomed Rep
Yu K, Xu X, Liu B, Zhang K, Lu Y, Dong X, Wang L, Cheng G, Wang J, Lu W, Wu B, Wang H, Luo F, Zhou W, Yang L.   +14 more
europepmc   +1 more source

Prenatal Diagnosis of a Feingold Syndrome Pregnancy Complicated with Severe Preeclampsia: A Report of a Challenging Case. [PDF]

Genes (Basel)
Samara AA, Perros P, Koutras A, Janho MB, Manolakos E, Daponte N, Ziogas AC, Garas A, Skentou C, Sotiriou S.   +9 more
europepmc   +1 more source