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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.
667 results