Kfir N - Search Results

1

Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6.

Falik-Zaccai TC, Laskar M, Kfir N, Nasser W, Slor H, Khayat M. Falik-Zaccai TC, et al. Among authors: kfir n. Am J Med Genet A. 2008 Jun 1;146A(11):1423-9. doi: 10.1002/ajmg.a.32309. Am J Med Genet A. 2008. PMID: 18446857

2

[Clinical, biochemical and molecular characterization of rare genetic disorders, related to nucleotide excision repair (NER) system].

Falik-Zaccai T, Kfir N, Laskar M, Segel R, Khyat M, Slor H. Falik-Zaccai T, et al. Among authors: kfir n. Harefuah. 2006 Dec;145(12):889-94, 942. Harefuah. 2006. PMID: 17220027 Hebrew.

3

Population screening in a Druze community: the challenge and the reward.

Falik-Zaccai TC, Kfir N, Frenkel P, Cohen C, Tanus M, Mandel H, Shihab S, Morkos S, Aaref S, Summar ML, Khayat M. Falik-Zaccai TC, et al. Among authors: kfir n. Genet Med. 2008 Dec;10(12):903-9. doi: 10.1097/GIM.0b013e31818d0e0f. Genet Med. 2008. PMID: 19092443 Free article.

4

Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat.

Berginer VM, Gross B, Morad K, Kfir N, Morkos S, Aaref S, Falik-Zaccai TC. Berginer VM, et al. Among authors: kfir n. Pediatrics. 2009 Jan;123(1):143-7. doi: 10.1542/peds.2008-0192. Pediatrics. 2009. PMID: 19117873

5

Primary hyperoxaluria type 3: from infancy to adulthood in a genetically unique cohort.

Julius M, Lavsky HS, Kalfon L, Kfir NC, Herskovits M, Wiesmann I, Zaccai TCF. Julius M, et al. Among authors: kfir nc. Pediatr Nephrol. 2025 Mar;40(3):731-741. doi: 10.1007/s00467-024-06536-w. Epub 2024 Oct 30. Pediatr Nephrol. 2025. PMID: 39476025 Free PMC article.

6

Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): Lessons learned from 19 pregnancies.

Zaccai TCF, Hassin-Baer S, Kfir NC, Duell PB, Neerhof M, Sloma R, Roitman M, Kisanuki YY, Verrips A, DeBarber AE. Zaccai TCF, et al. Among authors: kfir nc. Genet Med. 2024 May;26(5):101086. doi: 10.1016/j.gim.2024.101086. Epub 2024 Jan 27. Genet Med. 2024. PMID: 38288684 Free article.

7

Assembly and annotation of the Gossypium barbadense L. 'Pima-S6' genome raise questions about the chromosome structure and gene content of Gossypium barbadense genomes.

Chávez Montes RA, Ulloa M, Biniashvili T, Zackay A, Kfir N, Lopez-Arredondo D, Herrera-Estrella L. Chávez Montes RA, et al. Among authors: kfir n. BMC Genomics. 2023 Jan 10;24(1):11. doi: 10.1186/s12864-022-09102-6. BMC Genomics. 2023. PMID: 36627552 Free PMC article.

8

High-quality chromosome-scale genomes facilitate effective identification of large structural variations in hot and sweet peppers.

Lee JH, Venkatesh J, Jo J, Jang S, Kim GW, Kim JM, Han K, Ro N, Lee HY, Kwon JK, Kim YM, Lee TH, Choi D, Van Deynze A, Hill T, Kfir N, Freiman A, Davila Olivas NH, Elkind Y, Paran I, Kang BC. Lee JH, et al. Among authors: kfir n. Hortic Res. 2022 Sep 19;9:uhac210. doi: 10.1093/hr/uhac210. eCollection 2022. Hortic Res. 2022. PMID: 36467270 Free PMC article.

9

Familial Early-Onset Alzheimer's Caused by Novel Genetic Variant and APP Duplication: A Cross-Sectional Study.

Kalfon L, Paz R, Raveh-Barak H, Salama A, Samra N, Kaplun A, Chasnyk N, Kfir NC, Mousa NK, Biton ES, Tanus M, Aharon-Peretz J, Falik Zaccai TC. Kalfon L, et al. Among authors: kfir nc. Curr Alzheimer Res. 2022;19(10):694-707. doi: 10.2174/1567205020666221020095257. Curr Alzheimer Res. 2022. PMID: 36278440

10

A small-molecule ARTS mimetic promotes apoptosis through degradation of both XIAP and Bcl-2.

Mamriev D, Abbas R, Klingler FM, Kagan J, Kfir N, Donald A, Weidenfeld K, Sheppard DW, Barkan D, Larisch S. Mamriev D, et al. Among authors: kfir n. Cell Death Dis. 2020 Jun 25;11(6):483. doi: 10.1038/s41419-020-2670-2. Cell Death Dis. 2020. PMID: 32587235 Free PMC article.

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