Results 261 to 270 of about 975,602 (330)

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience. [PDF]

open access: yesInt J Neonatal Screen
Gragnaniello V   +9 more
europepmc   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

Effective coverage of maternal and newborn health services across the antepartum and peripartum continuum in primary health care in Ethiopia. [PDF]

open access: yesReprod Health
Tiruneh GT   +9 more
europepmc   +1 more source

Short-Term Evaluation of Newborns from Mothers with Grave's Disease: A Case Series Study

open access: diamond
Djibril Boiro   +9 more
openalex   +2 more sources

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

Analytical Validation of a Genomic Newborn Screening Workflow

open access: green
Kristine Hovhannesyan   +13 more
openalex   +2 more sources

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