Results 261 to 270 of about 759,619 (365)

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Long-term outcomes of a father-daughter program for sport participation, activity, wellbeing, and gender equity: a 3-8-year mixed-methods follow-up. [PDF]

BMC Public Health
Morgan PJ, Grounds JA, O'Connor R, Lee DR, Ashton LM.   +4 more
europepmc   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Parental eating attitudes and adolescent eating disorder severity: preliminary findings on orthorexic tendencies. [PDF]

Eat Weight Disord
Camardella F, Pellegatta V, Poggiogalle E, Casini MP, Gigliotti F, Terlizzi S, Favaro A, Todisco P, Meneguzzo P, Donini LM.   +9 more
europepmc   +1 more source

Juan Bautista de Anza, Father and Son: Pillars of New Spain's Far North

, 2004
John L. Kessell
openalex   +1 more source

Paternal Engagement in Infant and Young Child Feeding: A Systematic Review and Meta-Analysis of Its Extent and Associated Factors. [PDF]

Matern Child Nutr
Adisu MA, Molla B, Gessesse AD, Tigabu D, Wodaynew T, Ali AS, Habtie TE.   +6 more
europepmc   +1 more source

Additional file 1 of Developing and testing a system alignment approach to address homelessness among black fathers in Atlanta, GA

Latrice Rollins, Thomas C. Cotton, Lease Youmans, J. Dontae Roberts, Jennifer Elliott, Diamond Cunningham, Caleb Platel, Chris White, Jasmine Cunningham, Errol Crook   +9 more
openalex   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Exploring Indonesian fathers' educational needs in newborn care: A qualitative study. [PDF]

Belitung Nurs J
Agustina AN, Pratiwi A, Mahardika P.
europepmc   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source