Results 251 to 260 of about 510,747 (317)

The impact of the COVID-19 pandemic on diagnostic procedures in hearing healthcare in Brazil: time series analysis and regional inequalities COVID-19 and hearing diagnostics in Brazil. [PDF]

Braz J Otorhinolaryngol
Corrêa Guimarães G, Menino Castilho A, Rodrigues da Silva VA.   +2 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

Stimulate, Ventilate Collaborate-A Qualitative Study Underpinning the Development of an Educational Guide to Newborn Resuscitation for Midwifery Students. [PDF]

Nurs Open
Ljungblad LW.
europepmc   +1 more source

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

The King in the Crosshairs: Evidence of a Predation Attempt on European Bison by Wolves. [PDF]

Ecol Evol
Wijnands RR, Borowik T.
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

Birth Weight and Early Weight Changes in Newborn Dogs: Analyzing Key Influencing Factors in Dobermann Puppies. [PDF]

Animals (Basel)
Fusi J, Bucci R, Scabrosetti C, Faustini M, Veronesi MC.   +4 more
europepmc   +1 more source

Incidental Detection of Glutamate Formiminotransferase Deficiency Through Newborn Screening in a Clinically Asymptomatic Infant: Molecular Findings and Counseling Considerations. [PDF]

Cureus
Baheer Abdulwahhab S, Ben Omran M, A Aldirbashi OY.   +2 more
europepmc   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Integrating tuberculosis control into maternal and newborn health services during pregnancy and postpartum is an urgent priority. [PDF]

PLOS Glob Public Health
Okomo U, Nkereuwem E, Blencowe H, Banke-Thomas A, Togun T.   +4 more
europepmc   +1 more source