Results 171 to 180 of about 22,857 (208)

Expanding congenital Zika syndrome: normocephalic infants with neurological and visual deficits. [PDF]

Ann Med Surg (Lond)
Amjad A, Tameez-Ud-Din S, Segawa F.
europepmc   +1 more source

Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case. [PDF]

Clin Case Rep
Verdi G, Foksinska A, Nichols EL, Schmit EO, Watson A, Eckenrode M, Robin NH.   +6 more
europepmc   +1 more source

Role of Ultrasound and Fetal MRI in the Prenatal Assessment of Congenital Cytomegalovirus Infection: A Systematic Review. [PDF]

J Clin Med
Stefanska K, Berbeka K, Madej D, Witkowski P, Rybak-Krzyszkowska M, Sawicki S, Illa M.   +6 more
europepmc   +1 more source

Genetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12). [PDF]

Front Genet
Chen JY, Cai MJ, Chen XL, Ge YS.
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

Congenital abnormalities in Pacific Island Countries and Territories: a scoping review. [PDF]

BMC Public Health
Kitchener E, Thurecht R, Mackrill J, Dixson B, Kafer G.   +4 more
europepmc   +1 more source

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 missense variant in Exon 9 of the <i>ASNS</i> gene causes splicing abnormality in an Infant with asparagine synthetase deficiency. [PDF]

Front Genet
Zhang W, Chen F, Wang Z, Ding H, Zhang Y, Zeng L.   +5 more
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

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

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