Results 181 to 190 of about 54,392 (259)

A Case of Monozygotic Twins Carrying a Novel Loss-of-Function Variant in the MYCBP2 Gene, Presenting With Microcephaly, Ectopic Kidney and Growth Restriction. [PDF]

Prenat Diagn
Tan Y, Tian H, Mai J, Xu R, Yang M.
europepmc   +1 more source

Unraveling the Genotype-Phenotype Landscape of Kleefstra Syndrome Through <i>EHMT1</i> Variant Analysis. [PDF]

Neurol Genet
Kim JM, Cha JH, Kim W, Kim SY, Ko JM, Lim B, Lee S, Chae JH.   +7 more
europepmc   +1 more source

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families. [PDF]

BMC Neurol
Ahmad B, Adams M, Javed I, Tariq M, Muhammad A, Harrold L, Almond RJ, Ubeyratna N, Sarwar MT, Leslie JS, Crosby AH, Baple EL, Rawlins LE, Qasim M.   +13 more
europepmc   +1 more source

Cortical auditory response and language development in children with microcephaly by Zika virus. [PDF]

Braz J Otorhinolaryngol
Figueiredo Frizzo AC, Lira de Andrade KC, Rombola IT, Teixeira da Costa KV, Baisi Chagas EF, de Lemos Menezes P.   +5 more
europepmc   +1 more source

Facial Morphology Assessment in Brazilian Children With Congenital Zika Virus Syndrome: A Cross-Sectional Anthropometric Study. [PDF]

Int J Dent
Barbosa DAO, de Sousa MOP, da Rocha MLM, Pereira Filho CRT, Lima MCF, Carvalho EDF, de Souza ML, de Barros Silva PG, da Silva PTA, Silva JFM, Carvalho IF, Alencar PNB.   +11 more
europepmc   +1 more source

Congenital microcephaly: Case definition & guidelines for data collection, analysis, and presentation of safety data after maternal immunisation

Need for developing case definitions and guidelines for data collection, analysis, and presentation for congenital microcephaly as an adverse event following maternal immunisation Congenital microcephaly, also referred to as primary microcephaly due to ...
Kachikis, Alisa, Muñoz, Flor M., Klein, Nicola P., Oleske, James M., Tse Kawai, Alison Tse, Tagbo, Beckie N., Shrestha, Anju, Marshall, Helen, DeSilva, Malini, Nesin, Mirjana, Sell, Erick, Spiegel, Hans, Bardají, Azucena, Brighton Collaboration Congenital Microcephaly Working Group, Heath, Paul T., Eckert, Linda O., Jehan, Fyezah, Kochhar, Sonali, Cutland, Clare L.   +18 more
core  

Strømme syndrome: the clinical and molecular spectrum associated with variants in CENPF. [PDF]

Eur J Hum Genet
Mulligan MR, Mulhall H, Hawarden SRA, Davies-Payne D, Heller R, Bicknell LS.   +5 more
europepmc   +1 more source

Novel Compound Heterozygous CEP152 Variants Associated with Atypical Seckel Syndrome 5 in a Chinese Child: Functional Characterization of a Novel Splice-Site Variant and Expansion of the Genotype-Phenotype Spectrum. [PDF]

Genes (Basel)
Du M, Wang P, Liu Z, Cao B.
europepmc   +1 more source

Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development. [PDF]

JIMD Rep
Bobić M, Sedmak G, Bokulić E, Medenica T, Žigman T, Vinković BM, Antolović V, Kešin N, Lehman I, Škaričić A, Novoselec M, Mateševac J, Kalamar MK, Frković SH, Barić I, Ramadža DP.   +15 more
europepmc   +1 more source

Case series on Zika virus genome detection in cerebrospinal fluid samples from newborns at a Brazilian tertiary hospital. [PDF]

Rev Inst Med Trop Sao Paulo
Zimmerman SF, Caldas JPS, Lima RG, Bonon SHA, Trabasso P, Marba STM.   +5 more
europepmc   +1 more source