Last Updated: 09/26/2026
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Found 13 publications
Aging reimagined: Bridging clinical modulation and scientific breakthroughs.
Journal: Biology of sport
Published: August 10, 2025
Acute Pancreatitis and Diabetic Ketoacidosis: Special Considerations in Diagnosis and Management.
Journal: Case reports in endocrinology
Published: February 02, 2025
Genotype-phenotype correlation in recessive DNAJB4 myopathy.
Journal: Research square
Published: November 01, 2024
Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
Journal: Acta neuropathologica communications
Published: August 14, 2024
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 06, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome.
Journal: European journal of human genetics : EJHG
Published: March 05, 2024
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.
Journal: American journal of medical genetics. Part A
Published: February 18, 2024
A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder.
Journal: American journal of medical genetics. Part A
Published: August 30, 2022
Pure Autonomic Failure with Asymptomatic Hypertensive Urgency: A Case Report and Literature Review.
Journal: Case reports in neurology
Published: September 10, 2018
A lethal phenotype associated with tissue plasminogen deficiency in humans.
Journal: Human genetics
Published: May 09, 2016
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Journal: Cell reports
Published: August 21, 2014
Last Updated: 09/26/2026