Results 241 to 250 of about 266,608 (313)

Explaining Resource Consumption Among Non-Normal Neonates

, 1991
Michelman, Thomas, and Phibbs, Ciaran S., Pezzullo, John, Schwartz, Rachel M.   +3 more
core  

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Reference Values of Peripheral Perfusion Index in Healthy Neonates and Preliminary Observations of Congenital Heart Disease in Tibet: A Cohort Study. [PDF]

Int J Neonatal Screen
Wei M, Dong Y, Zhuoma C, Peng L, Tian Y, Gu Q, Wei S, Zhuoma B, Hu X, Huang G.   +9 more
europepmc   +1 more source

Treating Defective Neonates in Hungary

, 1992
Schultz, Karoly
core  

Ethical Issues in the Treatment of Neonates With Severe Anomalies

, 1979
Roberts, Carolyn Sara
core   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Cochlear implantation for sensorineural hearing loss caused by neonatal hyperbilirubinemia. [PDF]

Semin Perinatol
Cheng MY, Oghalai JS.
europepmc   +1 more source

Overtreatment of Neonates? a Personal Retrospective

, 1992
Silverman, William A.
core  

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Norepinephrine Versus Dopamine as Initial Vasoactive Therapy in Neonatal Septic Shock: A Randomized Controlled Trial in a Tertiary Care Neonatal Intensive Care Unit in Eastern India. [PDF]

Cureus
Puramjai M, Pradhan DD, Panda SK, Rath S, Mohakud NK, Panda SS, Nayak MK.   +6 more
europepmc   +1 more source