Congenital glottic stenosis as a clinical manifestation of <i>FREM1</i>-associated disorders in a neonate with respiratory distress and aphonia. [PDF]
Dahlquist K +3 more
europepmc +1 more source
Cyclopia Syndrome with Neck Presentation: A Case of Alobar Holoprosencephaly and Prenatal Diagnostic Challenges. [PDF]
Taifour W +4 more
europepmc +1 more source
A case report of clitoral hood cyst in a pediatric patient with acute lymphoblastic leukemia and a review of the literature. [PDF]
Zubair Z +3 more
europepmc +1 more source
A new tool for pregnancy research: a unified definition for major congenital malformation across ICD eras. [PDF]
Thai TN +7 more
europepmc +1 more source
Unilateral cryptophthalmos (with syndactyly, laryngeal atresia and genital anomalies)
Guhanandhan M +3 more
doaj
Syndromic and isolated cryptophthalmos.
M L, Kulkarni +2 more
openaire +1 more source
Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses. [PDF]
Zhang N +5 more
europepmc +1 more source
Genetic variants in Ecuadorian families: unraveling the complexity of non-syndromic cleft lip and palate a case series. [PDF]
Luna-Chonata D +5 more
europepmc +1 more source
Longitudinal Incidence of Kidney/Urinary Stones in Individuals With Severe Motor and Intellectual Disabilities. [PDF]
Hashimoto K +8 more
europepmc +1 more source

