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Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
Clin Genet. 2020 Dec;98(6):571-576. doi: 10.1111/cge.13851. Epub 2020 Oct 12.
Clin Genet. 2020.
PMID: 33009664
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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Response to Hall et al.
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 D, Janssen PM; 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 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.
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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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