Results 151 to 160 of about 1,073,326 (316)

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

Analysis of Patient-Focused Information About Left Atrial Appendage Occlusion on US Hospital Web Pages.

JAMA Intern Med, 2022
Dhruva SS, Ji RZ, Ross JS, Spatz ES, Redberg RF.   +4 more
europepmc   +1 more source

Developing Web pages for professional communication

, 1999
Nina C. Davis, Jean M. Dickinson
openalex   +2 more sources

HTML Tags as Extraction Cues for Web Page Description Construction [PDF]

, 2003
Timothy C. Craven
openalex   +1 more source

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

Scientific Home Pages on the World Wide Web

, 1996
G. W. Lightner
openalex   +1 more source

Improving pseudo-relevance feedback in web information retrieval using web page segmentation [PDF]

, 2003
Shipeng Yu, Deng Cai, Ji-Rong Wen, Wei‐Ying Ma   +3 more
openalex   +1 more source

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

MichelaNglo: sculpting protein views on web pages without coding. [PDF]

Bioinformatics, 2020
Ferla MP, Pagnamenta AT, Damerell D, Taylor JC, Marsden BD.   +4 more
europepmc   +1 more source

Use of PubMed Web Page and Creation of Database Using EndNote.

, 1998
Hideki Nakajima, Yasunobu Hotta, Toshinori Sato   +2 more
openalex   +2 more sources