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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K, Böhrer-Rabel H, Caro-Llopis A, Cole T, Distelmaier F, Edery P, Ferreira CR, Jezela-Stanek A, Kerr B, Kluger G, Krawitz PM, Kuhn M, Lemke JR, Lesca G, Lynch SA, Martinez F, Maxton C, Mierzewska H, Monfort S, Nicolai J, Orellana C, Pal DK, Płoski R, Quarrell OW, Rosello M, Rydzanicz M, Sabir A, Śmigiel R, Stegmann APA, Stewart H, Stumpel C, Szczepanik E, Tzschach A, Wolfe L, Taylor JC, Murakami Y, Kinoshita T, Bayat A, Kini U. Loong L, et al. Among authors: pal dk. Genet Med. 2023 Jan;25(1):37-48. doi: 10.1016/j.gim.2022.09.007. Epub 2022 Nov 2. Genet Med. 2023. PMID: 36322149 Free article.
The impact of parent treatment preference and other factors on recruitment: lessons learned from a paediatric epilepsy randomised controlled trial.
Carter B, Bray L, Al-Najjar N, Piella AT, Tudur-Smith C, Spowart C, Collingwood A, Crudgington H, Currier J, Hughes DA, Wood E, Martin R, Morris C, Roberts D, Rouncefield-Swales A, Sutherland H, Watson V, Cook G, Wiggs L, Gringras P, Pal D. Carter B, et al. Trials. 2023 Feb 6;24(1):83. doi: 10.1186/s13063-023-07091-9. Trials. 2023. PMID: 36747248 Free PMC article. Clinical Trial.
A single-stage dorsal inlay buccal mucosal graft placement through subcoronal vertical sagittal ventral urethrotomy without glansplasty for reconstruction of meatal stenosis, fossa navicularis, and distal penile urethral stricture: Our initial experience.
Srivastava SK, Sarkar D, Pal DK. Srivastava SK, et al. Among authors: pal dk. Indian J Urol. 2024 Jan-Mar;40(1):49-55. doi: 10.4103/iju.iju_290_23. Epub 2023 Dec 29. Indian J Urol. 2024. PMID: 38314077 Free PMC article.
337 results