Results 191 to 200 of about 759,603 (318)

Under-5 mortality trends and leading causes of death in Greece, 2016-2020: A nationwide study. [PDF]

Public Health Pract (Oxf)
Tzoraki M, Igoumenidi EM, Naltsas G, Kourlaba G, Siahanidou T, Metallinou D.   +5 more
europepmc   +1 more source

Neonatal Surgery [PDF]

Proceedings of the Royal Society of Medicine, 1967
openaire   +2 more sources

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

Rethinking neonatal <i>Escherichia coli</i> sepsis: the overlooked role of maternally transferred immunity. [PDF]

Front Immunol
Tang D, Kang R.
europepmc   +1 more source

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

Incidence and predictors of neonatal hyperbilirubinemia requiring phototherapy: A prospective cohort study at a tertiary hospital in Uganda. [PDF]

PLoS One
Yusuf HM, Turyasiima M, Nankunda J, Twesigemukama SW, Egesa WI, Abdulle AM, Elfakey W, Said ZA, Mohamud AH, Epuitai J, Kahie FD, Hassan HA, Abdi AA, Hakizimana T, Hirsi AM, Nduwimana M.   +15 more
europepmc   +1 more source

Investigating the Outcomes of Advanced Neonatal Resuscitation in Preterm Neonates: A Retrospective Cohort Study in Iran. [PDF]

Health Sci Rep
Sadeghimoghaddam P, Nozari A, Shariat M, Naddaf A, Parsaei M.   +4 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

Response to Letter to the Editor. [PDF]

Paediatr Neonatal Pain
Pate JW, Fechner R, Tagliaferri SD, Schneider E, Saragiotto B.   +4 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source