Results 241 to 250 of about 8,860,936 (359)

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

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

open access: yesAmerican 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   +2 more
wiley   +1 more source

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

open access: yesAnimal 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   +4 more
wiley   +1 more source

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley   +1 more source

Stem cell–based therapies for type 1 diabetes: Progress in differentiation, clinical translation, and immune protection

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Directed differentiation of pluripotent stem cells into functional pancreatic β cells have emerged as a promising strategy for the radical treatment of type 1 diabetes, with preclinical and early clinical evidence demonstrating reversal of hyperglycemia and insulin independence.
Zifan Li, Yu Kang, Yuyu Niu
wiley   +1 more source

Soft, all-in-one, nanomembrane wearable system for advancing neonatal health monitoring in Ethiopia. [PDF]

open access: yesNPJ Digit Med
Zhou L   +14 more
europepmc   +1 more source

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