Results 171 to 180 of about 65,000 (292)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 937-946, April 2026.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 3, Page 205-211, April 2026.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone   +8 more
wiley   +1 more source

Brain Involvement in Leishmaniasis

open access: yesCell Biochemistry and Function, Volume 44, Issue 4, April 2026.
ABSTRACT Leishmaniasis is a neglected tropical disease caused by infection with the protozoan parasite Leishmania and it is a significant global health problem. The disease has a wide clinical spectrum, from tegumentary leishmaniasis (TL) that encompasses cutaneous (CL), mucosal (ML) and cutaneous‐diffuse (CDL) forms, to the potentially fatal systemic ...
Camila S. Freitas   +2 more
wiley   +1 more source

DIVERGENT STRABISMUS [PDF]

open access: yesBritish Journal of Ophthalmology, 1937
openaire   +2 more sources

Orthotropic Outcome With Spectacle Correction in a Pediatric Case of Refractive Esotropia and Anisometropic Amblyopia

open access: yesClinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Early and accurate spectacle correction in children with refractive esotropia and anisometropic amblyopia can restore orthotropia, improve visual acuity, and prevent long‐term amblyopia. Timely diagnosis, careful refractive assessment, and individualized management are crucial.
Nabila Al‐Tamimi   +3 more
wiley   +1 more source

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