Results 81 to 90 of about 754,623 (244)

Oxford Monographs on Medical Genetics No 15. Duchenne Muscular Dystrophy [PDF]

, 1987
G Hosking
openalex   +1 more source

Variants of significance: medical genetics and surgical outcomes in congenital heart disease

, 2020
Purpose of review: This article reviews the current understanding and limitations in knowledge of the effect genetics and genetic diagnoses have on perioperative and postoperative surgical outcomes in patients with congenital heart disease (CHD ...
Geddes, Gabrielle C., Ware, Stephanie M., Przybylowski, Leon F., III.   +2 more
core   +1 more source

British Medical Genetics Conference. York, 12-14 September 1994. Abstracts. [PDF]

, 1995
Black, C. M., Withers, A. P., Alghaban, Z., Baty, D. U., Gray, Jonathon, McLeish, L., Boxer, M.   +6 more
openalex   +1 more source

Smith–Lemli–Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development

Biomedicines
Background/Objectives: Smith–Lemli–Opitz syndrome is a metabolic autosomal recessive disease, characterized by congenital defects, with concomitant psychomotor developmental delay. The symptoms are variable and depend on the clinical form of the disease.
Dorota Olczak-Kowalczyk, Aneta Witt-Porczyk, Paula Piekoszewska-Ziętek, Małgorzata Krajewska-Walasek   +3 more
doaj   +1 more source

American Journal of Medical Genetics Part A: Volume 170A, Number 1, January 2016 [PDF]

, 2015

openalex   +1 more source

Medical genetics at a glance [PDF]

, 2004
Saira Hameed, Anne Dornhorst
openalex   +1 more source

Identification and prioritization of quality indicators in clinical genetics: An international survey

, 2009
The range and demand for clinical genetic services will continue to grow, and now is an ideal time to assess current service quality. Based on the previous work of quality professional organizations such as the Institute of Medicine (IOM) and The Joint ...
Zellerino, BC, Williams, MS, Milligan, SA, Brooks, R, Gray, Jonathon   +4 more
core   +1 more source

Assessment of TSPO Gene Expression Levels in Colorectal Cancer Tumors: A Paired Sample Study

Cancer Reports
Background and Aim Colorectal cancer (CRC) is the second leading cause of cancer‐related deaths. Early detection through screening is crucial for improving treatment outcomes.
Hamidreza Karami Gorji, Mehdi Karimi, Masoud Mortezazadeh, Niyousha Shirsalimi, Sheyda Akhshabi, Alireza Yousefi Ladmakhi, Mehdi Kashani, Seyyed Taher Seyyed Mahmoudi, Abbas Mofidi, Abolhasan Rezaei   +9 more
doaj   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1

Frontiers in Immunology
Children with severe inflammatory diseases are challenging to diagnose and treat, and the etiology of disease often remains unexplained. Here we present DIAPH1 deficiency as an unexpected genetic finding in a child with fatal inflammatory bowel disease ...
Sagar Bhattad, Somashekara H. Ramakrishna, Ratan Kumar, Joseph M. Choi, Janet G. Markle, Janet G. Markle, Janet G. Markle   +6 more
doaj   +1 more source