Results 231 to 240 of about 1,223,395 (356)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Predictors of ventricular fibrillation or cardiac arrest in patients hospitalized for acute myocardial infarction [PDF]

, 1981
James Tonascia, Moysés Szklo, Robert J. Goldberg, Harold L. Kennedy   +3 more
openalex   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Noncommunicable diseases associated with bleeding disorders, hospitalization, and mortality in patients with dengue in Mexico: A national analysis of confirmed cases in 2024. [PDF]

PLoS Negl Trop Dis
Hernández-Galdamez DR, González-Block MÁ, Romo-Dueñas DK, Osorio-López EA, Cerón-Meza R, Méndez-Hernández P.   +5 more
europepmc   +1 more source

THE HOSPITALIZED CHILD AND THE MOTHER

, 1974
MARY SULAKSHINI B
openalex   +1 more source

1073 MOLECULAR ANALYSIS OF CYTOMEGALOVIRUS INFECTIONS IN HOSPITALIZED INFANTS [PDF]

, 1981
Stephen A. Spector, James D. Connor
openalex   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Pediatric respiratory syncytial virus rehospitalization rate - a retrospective observational study from Switzerland. [PDF]

BMC Pediatr
Rupp N, Schöbi N, Duppenthaler A, Casaulta C, Kopp MV, Agyeman PK, Aebi C.   +6 more
europepmc   +1 more source

Unusual findings related to atypical creatine kinases in two hospitalized patients. [PDF]

, 1986
C A Loshon, S E Rittenhouse, G N Bowers, R B McComb   +3 more
openalex   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source