Results 101 to 110 of about 9,333,061 (296)

Prevalensi Bayi Lahir Cacat (Malformasi Kongenital) Di Rumah Sakit Pendidikan Fakultas Kedokteran Universitas YARSI [PDF]

, 2009
Congenital Malformations was instrumental in perinatal morbidity and infant mortality. Patients with severe disorders are classified to be affected physically, mentally, and socially and require special attention.
Mustofa, S. (Samsul), Panjiasih, T. S. (Tri), Wikaningrum, R. (Riyani)   +2 more
core  

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Obstructive Sleep Apnea in Young Infants with Down Syndrome Evaluated in a Down Syndrome Specialty Clinic [PDF]

, 2015
Children with Down syndrome (DS) experience congenital and functional medical issues that predispose them to obstructive sleep apnea (OSA). Research utilizing stringent age criteria among samples of infants with DS and OSA is limited. This study examines
Bull, Marilyn J., Davis, Charlene, Duvall, Nichole, Goffinski, Alida, Jenkinson, Sandra B., Roper, Randall J., Shepherd, Nicole, Stanley, Maria A.   +7 more
core   +1 more source

Human Pluripotent Stem Cell-Based Models for Hirschsprung Disease: From 2-D Cell to 3-D Organoid Model [PDF]

, 2022
Kathy Nga-Chu Lui, Esw Ngan
openalex   +1 more source

Hirschsprung-like disease is exacerbated by reduced de novo GMP synthesis [PDF]

, 2013
Hirschsprung disease (HSCR) is a partially penetrant oligogenic birth defect that occurs when enteric nervous system (ENS) precursors fail to colonize the distal bowel during early pregnancy.
Brittany L. Graham, Enomoto, Gabriel, Jonathan I. Lake, Kapur, Kapur, Lin, Meijering, Natarajan, Olga A. Tusheva, Robert O. Heuckeroth   +10 more
core   +2 more sources

Hirschsprung disease [PDF]

ANZ Journal of Surgery, 2017
King, SK, Karpelowsky, J
openaire   +3 more sources

Altered Distribution of Interstitial Cells of Cajal in Normoganglionic and Transitional Zone of Hirschsprung Disease and Their Clinical Significance [PDF]

, 2020
Radmila Janković
openalex   +1 more source

Retrospective Review of Perioperative Neonatal Echocardiography for Non‐Cardiac Surgery at a Quaternary Level Academic Hospital in Johannesburg, South Africa

Pediatric Anesthesia, EarlyView.
Bronwyn Faith Krause, Firoza Motara, Zainub Jooma   +2 more
wiley   +1 more source

Current concepts of enzyme histochemistry in modern pathology [PDF]

, 2008
Enzyme histochemistry serves as a link between biochemistry and morphology. It is based on metabolization of a substrate provided to a tissue enzyme in its orthotopic localization. Visualization is accomplished with an insoluble dye product.
Bruder, E., Meier-Ruge, W. A.
core   +1 more source

PHOX2B mutations in patients with Ondine–Hirschsprung disease and a review of the literature [PDF]

, 2011
Min‐Jung Kwon, Gi-Hyuck Lee, Myoungkeun Lee, Ji‐Youn Kim, Hye Soo Yoo, Chang‐Seok Ki, Yun Sil Chang, Jong‐Won Kim, Won Soon Park   +8 more
openalex   +1 more source