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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

2,483 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F. Blayney GV, et al. Among authors: aggarwal s. Prenat Diagn. 2024 Apr;44(4):422-431. doi: 10.1002/pd.6466. Epub 2023 Dec 6. Prenat Diagn. 2024. PMID: 38054560 Free PMC article.
Fetal phenotypes of Mendelian disorders: A descriptive study from India.
Saini N, Venkatapuram VS, Vineeth VS, Kulkarni A, Tandon A, Koppolu G, Patil SJ, Dalal A, Aggarwal S. Saini N, et al. Among authors: aggarwal s. Prenat Diagn. 2022 Jun;42(7):911-926. doi: 10.1002/pd.6172. Epub 2022 Jun 1. Prenat Diagn. 2022. PMID: 35587316
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U, Aggarwal S, Beneteau C, Cacheiro P, Carmody LC, Collardeau-Frachon S, Dempsey EA, Dufke A, Duyzend MH, El Ghosh M, Giordano JL, Glad R, Grinfelde I, Iliescu DG, Ladewig MS, Munoz-Torres MC, Pollazzon M, Radio FC, Rodo C, Silva RG, Smedley D, Sundaramurthi JC, Toro S, Valenzuela I, Vasilevsky NA, Wapner RJ, Zemet R, Haendel MA, Robinson PN. Dhombres F, et al. Among authors: aggarwal s. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):231-242. doi: 10.1002/ajmg.c.31989. Epub 2022 Jul 24. Am J Med Genet C Semin Med Genet. 2022. PMID: 35872606 Free PMC article.
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome.
Saini N, Das Bhowmik A, Yareeda S, Venkatapuram V, Jabeen SA, Tallapaka K, Dalal A, Aggarwal S. Saini N, et al. Among authors: aggarwal s. Am J Med Genet A. 2023 Jan;191(1):238-248. doi: 10.1002/ajmg.a.63000. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271814
2,483 results