Slae M - Search Results

1

Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis.

Berkun L, Slae M, Mor-Shaked H, Koplewitz B, Eventov-Friedman S, Harel T. Berkun L, et al. Among authors: slae m. Am J Med Genet A. 2019 Dec;179(12):2454-2458. doi: 10.1002/ajmg.a.61355. Epub 2019 Sep 9. Am J Med Genet A. 2019. PMID: 31502381

2

Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder.

Abu-Libdeh B, Mor-Shaked H, Atawna AA, Gillis D, Halstuk O, Shaul-Lotan N, Slae M, Sultan M, Meiner V, Elpeleg O, Harel T. Abu-Libdeh B, et al. Among authors: slae m. Eur J Hum Genet. 2021 Jun;29(6):977-987. doi: 10.1038/s41431-021-00844-7. Epub 2021 Mar 15. Eur J Hum Genet. 2021. PMID: 33723354 Free PMC article.

3

Neonatal thrombotic microangiopathy secondary to factor I variant with Hirschsprung disease.

Nitzan-Luques A, Slae M, Zugayar D, Dixon BP, Meir K, Volovelsky O. Nitzan-Luques A, et al. Among authors: slae m. J Nephrol. 2021 Feb;34(1):241-245. doi: 10.1007/s40620-020-00766-5. Epub 2020 Jun 8. J Nephrol. 2021. PMID: 32514992

4

Cystic fibrosis and the gut.

Slae M, Wilschanski M. Slae M, et al. Frontline Gastroenterol. 2020 Oct 27;12(7):622-628. doi: 10.1136/flgastro-2020-101610. eCollection 2021. Frontline Gastroenterol. 2020. PMID: 34917319 Free PMC article.

5

Evaluation of gastrointestinal symptoms in pediatric patients post hematopoietic stem cell transplantation: Ileo-colonoscopy versus sigmoidoscopy. A single-center experience and review of literature.

Slae M, Pinhasov D, Averbuch D, Davidovics Z, Or EE, Reif S, Stepensky P, Zaidman I. Slae M, et al. Pediatr Blood Cancer. 2021 Nov;68(11):e29235. doi: 10.1002/pbc.29235. Epub 2021 Jul 15. Pediatr Blood Cancer. 2021. PMID: 34264544 Review.

6

A Green Light for Stop Mutations.

Cohen-Cymberknoh M, Slae M, Wilschanski M. Cohen-Cymberknoh M, et al. Among authors: slae m. Am J Respir Cell Mol Biol. 2021 May;64(5):531-532. doi: 10.1165/rcmb.2021-0060ED. Am J Respir Cell Mol Biol. 2021. PMID: 33705685 Free PMC article. No abstract available.

7

Cystic fibrosis: a gastrointestinal cancer syndrome.

Slae M, Wilschanski M. Slae M, et al. Lancet Oncol. 2018 Jun;19(6):719-720. doi: 10.1016/S1470-2045(18)30250-X. Epub 2018 Apr 26. Lancet Oncol. 2018. PMID: 29706381 No abstract available.

8

Characterization and natural history of congenital intrahepatic portosystemic shunts.

Cytter-Kuint R, Slae M, Kvyat K, Shteyer E. Cytter-Kuint R, et al. Among authors: slae m. Eur J Pediatr. 2021 Jun;180(6):1733-1737. doi: 10.1007/s00431-021-03949-9. Epub 2021 Jan 22. Eur J Pediatr. 2021. PMID: 33481107

9

Effects of new and emerging therapies on gastrointestinal outcomes in cystic fibrosis.

Houwen RHJ, van der Woerd WL, Slae M, Wilschanski M. Houwen RHJ, et al. Among authors: slae m. Curr Opin Pulm Med. 2017 Nov;23(6):551-555. doi: 10.1097/MCP.0000000000000423. Curr Opin Pulm Med. 2017. PMID: 28787381 Review.

10

Hijab Pin Ingestions.

Yogev D, Mahameed F, Gileles-Hillel A, Millman P, Davidovics Z, Hashavya S, Rekhtman D, Wilschanski M, Berkun Y, Slae M. Yogev D, et al. Among authors: slae m. Pediatrics. 2020 Jun;145(6):e20193472. doi: 10.1542/peds.2019-3472. Epub 2020 May 8. Pediatrics. 2020. PMID: 32385133

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