Results 211 to 220 of about 266,608 (313)

Clinical characteristics associated with gastrointestinal bleeding in neonates with laboratory-confirmed norovirus gastroenteritis. [PDF]

Front Public Health
Zhu L, Peng H, Huang Y, Huang H, Zhu X, Shen Y.   +5 more
europepmc   +1 more source

Off-Label Medication Use in a Serbian Neonatal Intensive Care Unit: A Single-Center Retrospective Cohort Study. [PDF]

J Clin Med
Martić N, Jančić J, Spasojević S, Martić N, Rašković A, Krstić M, Kusturica MP.   +6 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

Respiratory Physiotherapy Techniques in Neonatal Intensive Care Units: A Scoping Review. [PDF]

Physiother Res Int
Júnior NWBS, Fernandes ATDNSF, Souza Monteiro K, Silva ATC, Nunes AM, Felcar JM, Alves Pereira S.   +6 more
europepmc   +1 more source

Handicapped Neonates

, 1987
Rouse, Fenella
core  

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Outcomes of infants undergoing surgery for oesophageal atresia and trachea-oesophageal fistula at a tertiary referral hospital in Tanzania. [PDF]

PLOS Glob Public Health
Nyamuryekung'e MK, Nyamuryekung'e KK, Bakari RA, Philipo GS, Ngiloi P.   +4 more
europepmc   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Gestational age-dependent effects of intrauterine inflammation, delivery mode, and fetal growth on respiratory morbidity in preterm neonates. [PDF]

Front Pediatr
Yokoi K, Iwata O, Iwata S, Kobayashi S, Kasukabe K, Nakamura Y, Yamamoto K, Katou T, Saitoh S, Goto H.   +9 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