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Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience.
Dervin T, Ranisavjevic N, Laot L, Mayeur A, Duperier C, Steffann J, Borghese R, Stoppa-Lyonnet D, Frydman N, Benachi A, Sonigo C, Grynberg M. Dervin T, et al. Among authors: steffann j. J Assist Reprod Genet. 2023 Jun;40(6):1381-1390. doi: 10.1007/s10815-023-02798-9. Epub 2023 May 8. J Assist Reprod Genet. 2023. PMID: 37154838 Free PMC article.
Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options.
Rodari MM, Cazals-Hatem D, Uzzan M, Martin Silva N, Khiat A, Ta MC, Lhermitte L, Touzart A, Hanein S, Rouillon C, Joly F, Elmorjani A, Steffann J, Cerf-Bensussan N, Parlato M, Charbit-Henrion F. Rodari MM, et al. Among authors: steffann j. J Clin Immunol. 2023 Aug;43(6):1403-1413. doi: 10.1007/s10875-023-01495-7. Epub 2023 May 9. J Clin Immunol. 2023. PMID: 37156989 Free PMC article.
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Till M, Touraine R, Toutain A, Vekemans M, Munnich A, Lyonnet S. Amiel J, et al. Among authors: steffann j. Am J Hum Genet. 2001 Dec;69(6):1370-7. doi: 10.1086/324342. Epub 2001 Oct 10. Am J Hum Genet. 2001. PMID: 11595972 Free PMC article.
105 results