Results 281 to 290 of about 1,924,739 (391)

Perinatal Outcomes in Pregnancies Complicated by Maternal Thrombocytopenia: A Retrospective Cohort Study. [PDF]

J Clin Med
Kim WJ, Park IY, Choi SK.
europepmc   +1 more source

Coxsackie group B fatal neonatal myocarditis associated with cardiomegaly [PDF]

, 1966
Richard C. Jennings
openalex   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Analysis of the in-hospital mortality in the tertiary referral department of neonatology and neonatal intensive care. [PDF]

Sci Rep
Kamianowski A, Kamianowski C, Szpica G, Jakubas A, Wasilewska A, Kamianowska M.   +5 more
europepmc   +1 more source

Neonatal adrenal hemorrhage and neonatal jaundice

Journal of Indian Association of Pediatric Surgeons, 2010
openaire   +4 more sources

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus, Maria Eduarda Andrade de Carvalho, Antonio Mutarelli, Paulo Victor Zattar Ribeiro   +7 more
wiley   +1 more source

Neonatal Thyrotoxicosis [PDF]

, 1968
W. Gaisford, Nina Mann
openalex   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Neonatal outcome in late preterm twin gestation: impact of antenatal corticosteroids therapy before 34 weeks. [PDF]

BMC Pregnancy Childbirth
Eliner O, Dicker-Sagy E, Schreiber H, Cohen G, Biron-Shental T, Kovo M.   +5 more
europepmc   +1 more source

Early-Onset Neonatal Sepsis

Clinical Microbiology Reviews, 2014
K. Simonsen, A. Anderson-Berry, S. Delair, H. Davies   +3 more
semanticscholar   +1 more source