Results 151 to 160 of about 2,263,137 (364)

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe, Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski, Riley Kessler, Precilla D'Souza, Lynne Wolfe, Jean M. Johnson, Tyra Estwick, John Yang, Paul R. Lee, Jennifer Murphy, Camilo Toro, Thomas Markello, Dennis Carter, David R. Adams, William A. Gahl, Cynthia J. Tifft   +19 more
wiley   +1 more source

Beyond the Syndrome: Extensive Congenital Abnormalities in an Infant With Trisomy 21. [PDF]

Clin Pathol, 2022
Ward JD, Sharma MS, Pizzuto MF, Moylan VJ, Askin FB, Kaufman DG.   +5 more
europepmc   +1 more source

Persistent Erythematous Telangiectatic Condition of Feet, Associated with a Congenital-Developmental Abnormality of Body-Build Allied to Arachnodactylia [PDF]

, 1933
Florian Weber
openalex   +1 more source

Congenital Abnormality of Spine [PDF]

Proceedings of the Royal Society of Medicine, 1933
F. W. M. Pratt, Pearse Williams
openaire   +3 more sources

Combined Factor VII and X Deficiency [PDF]

, 2011
Factor VII deficiency and factor X deficiency and very rare disorders individually. Combined Factor VII and X is a rare congenital blood disorder with very few cases reported in the literature.
Arora, Sunita, Narang, Gursharan Singh, Pahwa, Jivtesh Singh   +2 more
core  

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Occult intraspinal abnormalities and congenital scoliosis

Journal of Research in Medical Sciences, 2007
<font face="TimesNewRoman,Bold" size="1"><p align="left"><strong>BACKGROUND: </strong><font face="TimesNewRoman" size="2">Congenital scoliosis occurs because of either the failure of formation or the failure of segmentation ...
Mohammad Ali Erfani, Mohammad Saleh Ganjavian, Ebrahim Ameri, Hamid Namazi, Saeid Solooki   +4 more
doaj  

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? [PDF]

Eur J Hum Genet, 2022
Bourgon N, Garde A, Bruel AL, Lefebvre M, Mau-Them FT, Moutton S, Sorlin A, Nambot S, Delanne J, Chevarin M, Pöe C, Thevenon J, Lehalle D, Jean-Marçais N, Kuentz P, Lambert L, El Chehadeh S, Schaefer E, Willems M, Laffargue F, Francannet C, Fradin M, Gaillard D, Blesson S, Goldenberg A, Capri Y, Sagot P, Rousseau T, Simon E, Binquet C, Ascencio ML, Duffourd Y, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C.   +35 more
europepmc   +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

Congenital abnormalities of platelet membrane glycoproteins

Journal of Associated Medical Sciences, 2010
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Preeyanat Vongchan
doaj