Results 291 to 300 of about 1,348,248 (398)

Correction: Tummolo et al. Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives. <i>Pediatr. Rep.</i> 2026, <i>18</i>, 14. [PDF]

Pediatr Rep
Tummolo A, Ponzi E, Simonetti S, Gentile M.   +3 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Home based new born care practices among tribal population in Nilgiri District, Tamil Nadu, India. [PDF]

J Family Med Prim Care
Kanna SR, Mary AE, Devi RY, Saravanakumar P, Seenivasan P.   +4 more
europepmc   +1 more source

Cryohydrocytosis: When Cold Breaks the Membrane

American Journal of Hematology, EarlyView.
Athina Ntoumaziou, Mary Risinger, Yasmin Elgammal, Wenying Zhang, Theodosia A. Kalfa, Luke R. Smart   +5 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

The relationship between mothers' health literacy and their knowledge and attitudes towards newborn screening. [PDF]

J Community Genet
Sert S, Unsal A, Arslantas D, Arslangiray O, Dinleyici M.   +4 more
europepmc   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Infection with SARS-CoV-2 during pregnancy and perinatal death or neonatal intensive care admission: population-based cohort study. [PDF]

BMJ Paediatr Open
Manjavidze T, Nedberg IH.
europepmc   +1 more source

Effects of maternal obesity on metabolic syndrome in the offspring [PDF]

, 2006
Dijk, G. van,, Heinsbroek, A.C.M.,
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