Results 211 to 220 of about 1,448,973 (364)

Congenital Dislocation of Left Hip: Perthes' Disease of Right Hip [PDF]

, 1940
A. T. Fripp
openalex   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Stereoselective Biotransformation: Transfer of Learning to Advance Drug Metabolism and Biocatalysis

Angewandte Chemie, EarlyView.
Understanding stereoselective biotransformations has implications for predicting drug disposition and response and may also inspire novel biocatalytic and biomimetic strategies to address challenges in metabolite and API synthesis. ABSTRACT Chirality is an important determinant of drug action, as enantiomers can exhibit markedly different ...
Grace A. Okunlola, Godwin A. Aleku
wiley   +2 more sources

Congenital lumbar spinal stenosis: current perspectives on diagnosis, imaging, and treatment. [PDF]

EFORT Open Rev
El Khoury B, Assi A, Farhat M, Boutros M, Sebaaly A.   +4 more
europepmc   +1 more source

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families

, 2015
Faisal Ahmad, Muhammad Ansar, Sabba Mehmood, A. Izoduwa, Kwanghyuk Lee, Abdul Nasır, Muhammad Abrar, Sabba Mehmood, Asmat Ullah, Abdul Aziz, Joshua D. Smith, Jay Shendure, M. Bamshad, D.A. Nicekrson, Regie Lyn P. Santos‐Cortez, Suzanne M. Leal, Wasim Ahmad   +16 more
openalex   +2 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Cartwheel cataract, a specific sign of PAX6 -related aniridia. [PDF]

J Cataract Refract Surg
Bremond-Gignac D, Daruich A, Valleix S, Robert MP.   +3 more
europepmc   +1 more source

Case of True Congenital Thyroglossal Fistula [PDF]

, 1925
Hamilton Bailey
openalex   +1 more source

Congenital Tuberculosis [PDF]

Archives of Disease in Childhood, 1952
openaire   +2 more sources

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source