Results 141 to 150 of about 8,630,051 (376)

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

Correlation of Gestational Age Assessed by Last Menstrual Period, Antenatal Ultrasonography and New Ballard Score

GAIMS Journal of Medical Sciences
Background: Determining gestational age (GA) significantly influences the prognosis of newborns. Of the various methods available for gestational age assessment, gestational age assessment by first trimester ultrasonography (USG) as the most reliable ...
Maitri Chauhan, Yashvi Dattani, Sandeep Tilwani, Vinisha Makhijani, Shivani Barad, Rekha Thaddanee   +5 more
doaj   +1 more source

Assessment of gestational age in twins. [PDF]

, 1977
David Woods, A. F. Malan
openalex   +1 more source

Metabolic Dynamics and Prediction of Gestational Age and Time to Delivery in Pregnant Women

Cell, 2020
Liang Liang, Marie-Louise H. Rasmussen, B. Piening, Xiaotao Shen, M. Melbye   +4 more
semanticscholar   +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

Effects of Gestational Age, Birth Weight, and Hypoxemia on Pharmacokinetics of Amikacin in Serum of Infants [PDF]

, 1977
Martin G. Myers, Robert J. Roberts, Najwa J. Mirhij   +2 more
openalex   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Investigation of newborn blood metabolomics in varying intrauterine growth conditions

Jornal de Pediatria
Objectives: This study aimed to investigate changes in the blood metabolic profiles of newborns with varying intrauterine growth conditions. Specifically, we analyzed the levels of amino acids, carnitine, and succinylacetone among full-term newborns ...
Shengwen Wang, Xiaofei Lin, Yu Zhou, Xin Yang, Mingming Ou, Linxin Zhang, Yumei Wang, Jing Gao   +7 more
doaj   +1 more source

Changes in distribution of gestational age and birth weight among firstborn infants of Cardiff residents. [PDF]

, 1977
Robert G. Newcombe, Iain Chalmers
openalex   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source