Results 221 to 230 of about 691,594 (323)

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Delivery unit volume and neonatal mortality - A nationwide register study in Finland from 2008 to 2023. [PDF]

Eur J Pediatr
Kuitunen I.
europepmc   +1 more source

Neonatal Hirschsprung's disease. [PDF]

, 1967
Graham C. Fraser, A W Wilkinson
openalex   +1 more source

Neonatal nephrology [PDF]

Current Opinion in Pediatrics, 2012
openaire   +3 more sources

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella   +52 more
wiley   +1 more source

Epidemiology of sepsis in hospitalised neonates in Indonesia: high burden of multidrug-resistant infections reveals poor coverage provided by recommended antibiotic regimens. [PDF]

BMJ Glob Health
Putri ND, Dickson BF, Adrizain R, Kartina L, Baker J, Sukarja D, Cathleen F, Husada D, Utomo MT, Yuniati T, Suginali AK, Harrison M, Sharland M, Williams PC.   +13 more
europepmc   +1 more source

Morbimortalidad neonatal: agrupación de causas y factores para la prevención [PDF]

, 1959
Ernesto Plata Rueda
openalex  

Neonatal meningitis treated with trimethoprim and sulphamethoxazole. [PDF]

, 1969
R. N. Morzaria, I. G. Walton, D Pickering   +2 more
openalex   +1 more source

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

A multisite inventory study of neonatal syringe pumps in Zambia. [PDF]

Matern Health Neonatol Perinatol
Norton O, Jha P, Kazuma S, Lupupa M, Mmwamba E.   +4 more
europepmc   +1 more source