Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

345 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients.
Raskin S, Pereira-Ferrari L, Reis FC, Abreu F, Marostica P, Rozov T, Cardieri J, Ludwig N, Valentin L, Rosario-Filho NA, Camargo Neto E, Lewis E, Giugliani R, Diniz EM, Culpi L, Phillip JA 3rd, Chakraborty R. Raskin S, et al. J Cyst Fibros. 2008 Jan;7(1):15-22. doi: 10.1016/j.jcf.2007.03.006. Epub 2007 Jun 4. J Cyst Fibros. 2008. PMID: 17544945 Free article.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira… See abstract for full author list ➔ Redin C, et al. Among authors: raskin s. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.
Autism and duplication of 17q12q21.2 by array-CGH: a case report.
Weingartner A, Pegoraro NB, Maglioni RT, Moreira ICFN, Rodrigues GE, Kunz AC, Piai CB, Milano AS, Raskin S, Ferrari LP, Mikami LR. Weingartner A, et al. Among authors: raskin s. Rev Paul Pediatr. 2023 Jan 20;41:e2021387. doi: 10.1590/1984-0462/2023/41/2021387. eCollection 2023. Rev Paul Pediatr. 2023. PMID: 36700567 Free PMC article.
Multiple copy number variation in a patient with Kleefstra syndrome.
Lee TN, Rechetello HEL, Lima Júnior JBA, Cornelio JPFF, Pegoraro NB, Raskin S, Mikami LR. Lee TN, et al. Among authors: raskin s. Rev Paul Pediatr. 2023 Sep 15;42:e2022230. doi: 10.1590/1984-0462/2024/42/2022230. eCollection 2023. Rev Paul Pediatr. 2023. PMID: 37729241 Free PMC article.
345 results