Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in the LIFR gene.
Melnik E et al.
Frontiers in Pediatrics, 2024
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.
Kahraman AB et al.
American Journal of Medical Genetics. Part A, 2022
Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
Romeo Bertola D et al.
Molecular Syndromology, 2016
Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function.
Guran T et al.
Pituitary, 2015
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
McLaughlin HM et al.
Bmc Medical Genetics, 2014
Stuve-Wiedemann syndrome: is it underrecognized?
Yeşil G et al.
American Journal of Medical Genetics. Part A, 2014
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