Results 171 to 180 of about 8,710,665 (375)

115: Galactose-1-phosphate uridyltransferase and galactokinase activity in fetus organs of different gestation ages [PDF]

, 1976
Y.S. Shin-Buehring, THOMAS BEIER, Adelene Y. Tan, M. Osang, J. Schaub   +4 more
openalex   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

1033 IONIZED Ca (iCa) IN RELATION TO GESTATIONAL AGE [PDF]

, 1978
Reginald C. Tsang, Lori Abrams, Thomas H. Joyce, C. Ralph Buncher, Jean J. Steichen   +4 more
openalex   +1 more source

Morbidity and Mortality in Small for Gestational Age Infants at 22 to 29 Weeks’ Gestation

Pediatrics, 2018
Nansi S. Boghossian, M. Geraci, Erika M. Edwards, J. Horbar   +3 more
semanticscholar   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

INCONSISTANCY IN THE ESTIMATION OF GESTATIONAL AGE (GA) OF THE VERY LOW BIRTH WEIGHT (VLBW) INFANT [PDF]

, 1977
Christinia T. Ukrainski, Jeffrey Pomerance, Rosa Sánchez, Ricardo Liberman, Benjamin M. Kagan   +4 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

1018 INCREASED RISK OF LOW GRADE RETROLENTAL FIBROPLASIA (RLF) IN SMALL FOR GESTATIONAL AGE INFANTS (SGA) ≤ 1500 GM. AT BIRTH [PDF]

, 1978
Linda M Sacks, David B. Schaffer, Endla K. Anday, Maria Delivoria‐Papadopoulos   +3 more
openalex   +1 more source

Estimating gestational age. [PDF]

BMJ, 1979
openaire   +3 more sources

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source