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

Results by year

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

Year Number of Results
1971 1
1983 1
1984 1
2005 1
2006 1
2007 1
2008 2
2009 2
2010 2
2011 3
2012 2
2013 1
2014 3
2015 6
2016 7
2017 6
2018 16
2019 15
2020 10
2021 6
2022 9
2023 7
2024 8

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

92 results

Results by year

Filters applied: . Clear all
Page 1
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. Weiss K, et al. Among authors: martinez af. Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. Genet Med. 2020. PMID: 31388190 Free PMC article.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: martinez af. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Cohesin complex-associated holoprosencephaly.
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M. Kruszka P, et al. Among authors: martinez af. Brain. 2019 Sep 1;142(9):2631-2643. doi: 10.1093/brain/awz210. Brain. 2019. PMID: 31334757 Free PMC article.
Neural Plasticity in Obesity and Psychiatric Disorders.
Arcos-Burgos M, Acosta MT, Martinez AF, Muenke M, Enriori PJ, Mastronardi CA. Arcos-Burgos M, et al. Among authors: martinez af. Neural Plast. 2016;2016:6053871. doi: 10.1155/2016/6053871. Epub 2016 Apr 7. Neural Plast. 2016. PMID: 27144034 Free PMC article. No abstract available.
Human-Derived Organ-on-a-Chip for Personalized Drug Development.
Jodat YA, Kang MG, Kiaee K, Kim GJ, Martinez AFH, Rosenkranz A, Bae H, Shin SR. Jodat YA, et al. Among authors: martinez afh. Curr Pharm Des. 2018;24(45):5471-5486. doi: 10.2174/1381612825666190308150055. Curr Pharm Des. 2018. PMID: 30854951 Free PMC article. Review.
Molecular testing in holoprosencephaly.
Kruszka P, Martinez AF, Muenke M. Kruszka P, et al. Among authors: martinez af. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):187-193. doi: 10.1002/ajmg.c.31617. Epub 2018 May 17. Am J Med Genet C Semin Med Genet. 2018. PMID: 29771000 Free PMC article.
ADGRL3 (LPHN3) variants predict substance use disorder.
Arcos-Burgos M, Vélez JI, Martinez AF, Ribasés M, Ramos-Quiroga JA, Sánchez-Mora C, Richarte V, Roncero C, Cormand B, Fernández-Castillo N, Casas M, Lopera F, Pineda DA, Palacio JD, Acosta-López JE, Cervantes-Henriquez ML, Sánchez-Rojas MG, Puentes-Rozo PJ, Molina BSG; MTA Cooperative Group; Boden MT, Wallis D, Lidbury B, Newman S, Easteal S, Swanson J, Patel H, Volkow N, Acosta MT, Castellanos FX, de Leon J, Mastronardi CA, Muenke M. Arcos-Burgos M, et al. Among authors: martinez af. Transl Psychiatry. 2019 Jan 29;9(1):42. doi: 10.1038/s41398-019-0396-7. Transl Psychiatry. 2019. PMID: 30696812 Free PMC article.
92 results