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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2006 1
2008 1
2009 3
2010 4
2011 5
2013 3
2014 5
2015 4
2016 3
2017 7
2018 11
2019 16
2020 18
2021 22
2022 21
2023 22
2024 14

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131 results

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Page 1
Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
Kay DM, Sadeghi H, Kier C, Berdella M, DeCelie-Germana JK, Soultan ZN, Goetz DM, Caggana M, Fortner CN, Giusti R, Kaslovsky R, Stevens C, Voter K, Welter JJ; New York State Cystic Fibrosis Newborn Screening Consortium; Langfelder-Schwind E. Kay DM, et al. Among authors: sadeghi h. Pediatr Pulmonol. 2024 May 2. doi: 10.1002/ppul.27023. Online ahead of print. Pediatr Pulmonol. 2024. PMID: 38695616
Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome.
Norouzi Rostami F, Sadeghi H, Hashemi-Gorji F, Tehrani Fateh S, Mirfakhraie R, Karimzadeh P, Davarpanah M, Jamshidi S, Madannejad R, Moghimi P, Ekrami M, Miryounesi M, Ghasemi MR. Norouzi Rostami F, et al. Among authors: sadeghi h. Heliyon. 2024 Mar 6;10(6):e27434. doi: 10.1016/j.heliyon.2024.e27434. eCollection 2024 Mar 30. Heliyon. 2024. PMID: 38501011 Free PMC article.
Variability in evaluation and follow-up of newborns with CRMS/CFSPID in New York State.
Kier C, Kay DM, Langfelder-Schwind E, Goetz DM, Berdella M, DeCelie-Germana JK, Soultan ZN, Caggana M, Fortner CN, Giusti R, Kaslovsky R, Voter K, Welter JJ; New York State Cystic Fibrosis Newborn Screening Consortium; Sadeghi H. Kier C, et al. Among authors: sadeghi h. Pediatr Pulmonol. 2024 May;59(5):1511-1513. doi: 10.1002/ppul.26928. Epub 2024 Mar 1. Pediatr Pulmonol. 2024. PMID: 38426813 No abstract available.
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
Ghasemi MR, Tehrani Fateh S, Moeinafshar A, Sadeghi H, Karimzadeh P, Mirfakhraie R, Rezaei M, Hashemi-Gorji F, Rezvani Kashani M, Fazeli Bavandpour F, Bagheri S, Moghimi P, Rostami M, Madannejad R, Roudgari H, Miryounesi M. Ghasemi MR, et al. Among authors: sadeghi h. BMC Med Genomics. 2024 Feb 13;17(1):51. doi: 10.1186/s12920-024-01810-0. BMC Med Genomics. 2024. PMID: 38347586 Free PMC article.
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.
Tehrani Fateh S, Mohammad Zadeh N, Salehpour S, Hashemi-Gorji F, Omidi A, Sadeghi H, Mirfakhraie R, Moghimi P, Keyvanfar S, Mohammadi Sarvaleh S, Miryounesi M, Ghasemi MR. Tehrani Fateh S, et al. Among authors: sadeghi h. BMC Med Genomics. 2024 Jan 12;17(1):20. doi: 10.1186/s12920-024-01798-7. BMC Med Genomics. 2024. PMID: 38216990 Free PMC article. Review.
Improved recognition of lung function decline as signal of cystic fibrosis pulmonary exacerbation: a Cystic Fibrosis Learning Network Innovation Laboratory quality improvement initiative.
List R, Solomon G, Bichl S, Horton BJ, Shen S, Corcoran B, Sadeghi H, Britto MT, Ren C, Albon D; CFLN Collaboration Group FIES/SIES Innovation Lab. List R, et al. Among authors: sadeghi h. BMJ Open Qual. 2023 Dec 28;12(4):e002466. doi: 10.1136/bmjoq-2023-002466. BMJ Open Qual. 2023. PMID: 38154821 Free PMC article.
131 results