Results 151 to 160 of about 22,198 (205)

Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center. [PDF]

Int Med Case Rep J
Caropeboka MFA, Nisa AS, Pramatirta AY, Pribadi A, Mose JC.   +4 more
europepmc   +1 more source

Sensorial function in children with congenital Zika syndrome: what is the relationship with motor function? [PDF]

Rev Paul Pediatr
Brito ASS, Meira CAC, Moreira KMA, Santino TA, Tavares JS, Gama GL, Melo A.   +6 more
europepmc   +1 more source

Congenital Syngnathia With Holoprosencephaly: A Case Report of a Fatal Presentation in a Resource-Limited Setting. [PDF]

Clin Case Rep
Haile AM, Mengistie BT, Tamiru TY, Mengistie CT, Abebe DG, Haile BM.   +5 more
europepmc   +1 more source

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report. [PDF]

Am J Case Rep
Porowski M, Skarżyński H, Skarżyński PH.   +2 more
europepmc   +1 more source

Decoding the Genetic Enigma: A Case Study on Congenital Anomalies with Developmental Delay and 9q Duplication Unveiled Via Comprehensive Whole Exome Sequencing and Cytogenetic Analysis. [PDF]

Iran J Child Neurol
Dehghanzad R, Aghajanpour Mir M, Golchehre Z, Asadollahi M, Rahbar Parvaneh R, Tasharrofi B, Shakoori Farahani A, Keramatipour M.   +7 more
europepmc   +1 more source

Breastfeeding protects against malnutrition and growth failure in children with microcephaly associated with congenital Zika syndrome. [PDF]

Sci Rep
da Silva DS, Arrais NMR, Dos Santos LKC, Barbosa SS, Costa ÁDS, Lopes MMGD, da Silva Ribeiro KD.   +6 more
europepmc   +1 more source

A Novel STAG2 Frameshift Variant in Mullegama-Klein-Martinez Syndrome with Complex Conotruncal Heart Defect. [PDF]

Genes (Basel)
Wang H.
europepmc   +1 more source

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis. [PDF]

Clin Epigenetics
Kurup U, Lim DBN, Maharaj AV, Ishida M, Davies JH, Storr HL.   +5 more
europepmc   +1 more source

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating <i>KMT2A</i> Variant: Clinical and Genetic Correlations. [PDF]

Reports (MDPI)
Sokolova T, Ivanov H, Panova M, Sotkova-Ivanova I, Stoyanova V.   +4 more
europepmc   +1 more source

Expanding the Clinical Spectrum of PIEZO2 Duplications: A Case of Global Motor Delay, Congenital Sensory Neuropathy, and Musculoskeletal Abnormalities. [PDF]

Cureus
Lee G, Villar NM, Vo J, Kang L.
europepmc   +1 more source