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Response to Hall et al.
Am J Hum Genet. 2020 Dec 3;107(6):1188-1189. doi: 10.1016/j.ajhg.2020.11.006.
Am J Hum Genet. 2020.
PMID: 33275912
Free PMC article.
No abstract available.
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML; University of Washington Center for Mendelian Genomics; Amacher SL, Bamshad MJ.
Chong JX, et al. Among authors: saadeh haddad r.
Am J Hum Genet. 2020 Aug 6;107(2):293-310. doi: 10.1016/j.ajhg.2020.06.014. Epub 2020 Jul 23.
Am J Hum Genet. 2020.
PMID: 32707087
Free PMC article.
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Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
Gold NB, Li D, Chassevent A, Kaiser FJ, Parenti I, Strom TM, Ramos FJ, Puisac B, Pié J, McWalter K, Guillen Sacoto MJ, Cui H, Saadeh-Haddad R, Smith-Hicks C, Rodan L, Blair E, Bhoj E.
Gold NB, et al. Among authors: saadeh haddad r.
Clin Genet. 2020 Dec;98(6):571-576. doi: 10.1111/cge.13851. Epub 2020 Oct 12.
Clin Genet. 2020.
PMID: 33009664
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Perinatal findings in a patient with a novel large chromosome 19p deletion.
Culjat M, Razak J, Saadeh-Haddad R, Driggers R, Kamholz K, Timofeev J.
Culjat M, et al. Among authors: saadeh haddad r.
Clin Case Rep. 2018 Jun 21;6(8):1525-1530. doi: 10.1002/ccr3.1615. eCollection 2018 Aug.
Clin Case Rep. 2018.
PMID: 30147897
Free PMC article.
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