Results 221 to 230 of about 230,705 (317)

Terminating Treatment for Newborns: A Theological Perspective

, 1982
Paris, John J.
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Collaboration Between a Maxillofacial Surgeon and an Orthodontist in Implementing Comprehensive Rehabilitation Strategies for Newborns with Cleft Lip and Palate. [PDF]

Dent J (Basel)
Dudnik OV, Mamedov AA, Dybov AM, Mangano FG, Yudina DK.   +4 more
europepmc   +1 more source

Allowing Handicapped Newborns to Die

, 1983
O'Donnell, Michael
core  

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

The Effects of Social Support on Newborn Hygienic Care and Breastfeeding Intentions in Primigravid Pregnancies: A Cross-Sectional Descriptive Study. [PDF]

Scand J Caring Sci
Palas Karaca P, Türkmen H, Mısırlı M, Erişen D.   +3 more
europepmc   +1 more source

Ethical Treatment of Handicapped Newborns

, 1983
O'Donnell, Thomas J.
core  

Birth-size reference charts for newborns admitted to the neonatal intensive care units. [PDF]

BMC Pediatr
Chou FS, Yeh HW, Hsueh C, Olsen IE, Tolia VN, Clark RH.   +5 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source