The Case Against Mandatory HIV Testing of Pregnant Women: The Legal and Public Policy Implications [PDF]
McMillion, Evans
core +1 more source
InvestiGation of Serum Vitamin D Levels in Term Newborns and Their Mothers
Ayşegül Danış
openalex +1 more source
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova +10 more
wiley +1 more source
Growth Standards for Children With Smith–Magenis Syndrome (SMS)
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong +10 more
wiley +1 more source
Solid Cancers in the Premature and the Newborn: Report of Three National Referral Centers
Anna Raciborska +8 more
openalex +1 more source
A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds +5 more
wiley +1 more source
Newborns' attention to socio-emotional prosodic cues from voices. [PDF]
Silvestri V +6 more
europepmc +1 more source
Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää +14 more
wiley +1 more source
Disease burden and rehabilitation needs of preterm newborns in China from 1990 to 2021: trend analysis, factor decomposition, attributable risk factors, and projections toward 2035. [PDF]
Zhu M, Fan S, Zhang S, Yang L.
europepmc +1 more source

