Results 131 to 140 of about 498,738 (296)

THREE CASES OF CONGENITAL HEART DISEASE, WITH NOTES OF THE FAMILY HISTORY RELATING TO THEM. [PDF]

, 1911
Dyce Duckworth
openalex   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Placental pericytes and cytomegalovirus infectivity: Implications for HCMV placental pathology and congenital disease. [PDF]

Am J Reprod Immunol, 2017
Aronoff DM, Correa H, Rogers LM, Arav-Boger R, Alcendor DJ.   +4 more
europepmc   +1 more source

Anaesthesia for the surgical correction of congenital heart disease [PDF]

, 1955
Code Smith
openalex   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

CONGENITAL HEART DISEASE [PDF]

BMJ, 1935
J. W. Brown, D. C. Muir
openaire   +3 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

A Discussion on Syphilis, with Special Reference to (a) its Prevalence and Intensity in the Past and at the Present Day; (b) its Relation to Public Health, Including Congenital Syphilis; (c) the Treatment of the Disease [PDF]

, 1912
C. F. Marshall
  +5 more sources

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

The Use of an Oximetrically Determined Circulation Time from the Right Ventricle to the Ear in Congenital Heart Disease [PDF]

, 1952
Richard P. Lasser, Alvin J. Gordon, Raymond Borun, Frederick H. King   +3 more
openalex   +1 more source