Results 301 to 310 of about 849,858 (379)
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
Increasing Use of a Postpartum and Newborn Chatbot among Birthing Individuals and Caregivers: Development and Implementation Study. [PDF]
Rivera Rivera JN +5 more
europepmc +1 more source
Selective Nontreatment of Defective Newborns: An Ethical Analysis [PDF]
Johnson, Paul R.
core +1 more source
Short-Term Evaluation of Newborns from Mothers with Grave's Disease: A Case Series Study
Djibril Boiro +9 more
openalex +2 more sources
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss +8 more
wiley +1 more source
Determinants and spatial distribution of early newborn care in Somalia: evidence from the 2020 Somalia health and demographic survey. [PDF]
Ali AO +6 more
europepmc +1 more source
Analytical Validation of a Genomic Newborn Screening Workflow
Kristine Hovhannesyan +13 more
openalex +2 more sources
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit +16 more
wiley +1 more source
Perinatal Health Disparities Between Roma and Non-Roma Populations: A Systematic Review. [PDF]
Dimogerontaki A +8 more
europepmc +1 more source

