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Page 1
Real-world evidence in achondroplasia: considerations for a standardized data set.
Alanay Y, Mohnike K, Nilsson O, Alves I, AlSayed M, Appelman-Dijkstra NM, Baujat G, Ben-Omran T, Breyer S, Cormier-Daire V, Gregersen PA, Guillén-Navarro E, Högler W, Maghnie M, Mukherjee S, Cohen S, Pimenta J, Selicorni A, Semler JO, Sigaudy S, Popkov D, Sabir I, Noval S, Sessa M, Irving M. Alanay Y, et al. Among authors: cohen s. Orphanet J Rare Dis. 2023 Jun 26;18(1):166. doi: 10.1186/s13023-023-02755-w. Orphanet J Rare Dis. 2023. PMID: 37365619 Free PMC article.
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
Maghnie M, Semler O, Guillen-Navarro E, Selicorni A, Heath KE, Haeusler G, Hagenäs L, Merker A, Leiva-Gea A, González VL, Raimann A, Rehberg M, Santos-Simarro F, Ertl DA, Gregersen PA, Onesimo R, Landfeldt E, Jarrett J, Quinn J, Rowell R, Pimenta J, Cohen S, Butt T, Shediac R, Mukherjee S, Mohnike K. Maghnie M, et al. Among authors: cohen s. Orphanet J Rare Dis. 2023 Mar 15;18(1):56. doi: 10.1186/s13023-023-02652-2. Orphanet J Rare Dis. 2023. PMID: 36922864 Free PMC article.
Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.
Saitou H, Kitaoka T, Kubota T, Kanno J, Mochizuki H, Michigami T, Hasegawa K, Fujiwara I, Hamajima T, Harada D, Seki Y, Nagasaki K, Dateki S, Namba N, Tokuoka H, Pimenta JM, Cohen S, Ozono K. Saitou H, et al. Among authors: cohen s. Am J Med Genet A. 2024 Mar 30:e63612. doi: 10.1002/ajmg.a.63612. Online ahead of print. Am J Med Genet A. 2024. PMID: 38554024
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.
Mitchell JJ, Burton BK, Bober MB, Campeau PM, Cohen S, Dosenovic S, Ellaway C, Bhattacharya K, Guffon N, Hinds D, Lail A, Lin SP, Magner M, Raiman J, Schwartz-Sagi L, Stepien KM. Mitchell JJ, et al. Among authors: cohen s. Mol Genet Metab. 2022 Sep-Oct;137(1-2):164-172. doi: 10.1016/j.ymgme.2022.08.007. Epub 2022 Aug 30. Mol Genet Metab. 2022. PMID: 36087504 Free article.
Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline.
Tung N, Ricker C, Messersmith H, Balmaña J, Domchek S, Stoffel EM, Almhanna K, Arun B, Chavarri-Guerra Y, Cohen SA, Cragun D, Crew KD, Hall MJ, Idos G, Lopez G, Pal T, Pirzadeh-Miller S, Pritchard C, Rana HQ, Swami U, Vidal GA. Tung N, et al. Among authors: cohen sa. J Clin Oncol. 2024 May 17:JCO2400662. doi: 10.1200/JCO.24.00662. Online ahead of print. J Clin Oncol. 2024. PMID: 38759122
Electronic Nicotine-Delivery Systems for Smoking Cessation.
Borm FJ, Cohen S, Cohen D. Borm FJ, et al. Among authors: cohen s. N Engl J Med. 2024 May 16;390(19):1829-1830. doi: 10.1056/NEJMc2403709. N Engl J Med. 2024. PMID: 38749043 Review. No abstract available.
Prenatal diagnosis of fetal neck mass.
Vilk Ayalon N, Haboosheh A, Cohen SM, Valsky DV, Yagel S. Vilk Ayalon N, et al. Among authors: cohen sm. Ultrasound Obstet Gynecol. 2024 May 15. doi: 10.1002/uog.27681. Online ahead of print. Ultrasound Obstet Gynecol. 2024. PMID: 38748921 No abstract available.
The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations.
Narod SA, Metcalfe K, Finch A, Chan AW, Armel SR, Aeilts A, Eisen A, Karlan B, Bordeleau L, Tung N, Foulkes WD, Neuhausen SL, Eng C, Olopade O, Zakalik D, Couch F, Cullinane C, Pal T, Sun P, Kotsopoulos J; Hereditary Breast Cancer Clinical Research Group. Narod SA, et al. Hered Cancer Clin Pract. 2024 May 13;22(1):7. doi: 10.1186/s13053-024-00277-5. Hered Cancer Clin Pract. 2024. PMID: 38741145 Free PMC article.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao 趙孝端 HT. Paul MS, et al. Among authors: cohen sr. Am J Hum Genet. 2024 May 8:S0002-9297(24)00163-0. doi: 10.1016/j.ajhg.2024.04.022. Online ahead of print. Am J Hum Genet. 2024. PMID: 38723631 No abstract available.
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