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

380 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid M, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Kerby C Oberg, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Calame DG, et al. Among authors: srinivasan vm. medRxiv [Preprint]. 2024 Feb 13:2024.02.09.24302464. doi: 10.1101/2024.02.09.24302464. medRxiv. 2024. PMID: 38405817 Free PMC article. Preprint.
Mucolipidosis Type IV Due to Novel MCOLN1 Mutation.
Gowda VK, Srinivasan VM, Bhat M, Benakappa A. Gowda VK, et al. Among authors: srinivasan vm. Indian J Pediatr. 2017 Nov;84(11):871-872. doi: 10.1007/s12098-017-2401-6. Epub 2017 Jun 16. Indian J Pediatr. 2017. PMID: 28620732 No abstract available.
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings.
Gowda VK, Srinivasan VM, Bhat M, Benakappa N. Gowda VK, et al. Among authors: srinivasan vm. Indian J Pediatr. 2018 Feb;85(2):155-157. doi: 10.1007/s12098-017-2471-5. Epub 2017 Nov 4. Indian J Pediatr. 2018. PMID: 29101630
A Case of Juvenile Alexander Disease Presenting as Microcephaly.
Gowda VK, Srinivasan VM, Jetha K, Bhat MD. Gowda VK, et al. Among authors: srinivasan vm. Indian J Pediatr. 2019 Apr;86(4):392-393. doi: 10.1007/s12098-018-02850-y. Epub 2019 Jan 10. Indian J Pediatr. 2019. PMID: 30628038 No abstract available.
Kufor-Rakeb Syndrome/ Parkinson Disease Type 9.
Gowda VK, Srinivasan VM, Shivappa SK. Gowda VK, et al. Among authors: srinivasan vm. Indian J Pediatr. 2020 Mar;87(3):231-232. doi: 10.1007/s12098-019-03167-0. Epub 2020 Jan 14. Indian J Pediatr. 2020. PMID: 31933133 No abstract available.
Waardenburg Syndrome Type I.
Gowda VK, Srinivas S, Srinivasan VM. Gowda VK, et al. Among authors: srinivasan vm. Indian J Pediatr. 2020 Mar;87(3):244. doi: 10.1007/s12098-019-03170-5. Epub 2020 Jan 27. Indian J Pediatr. 2020. PMID: 31989460 No abstract available.
Fucosidosis with Pathogenic Variant in FUCA1 Gene.
Gowda VK, Srinivasan VM, Vegda H, Bhat M. Gowda VK, et al. Among authors: srinivasan vm. Indian J Pediatr. 2020 Oct;87(10):867-868. doi: 10.1007/s12098-020-03246-7. Epub 2020 Mar 3. Indian J Pediatr. 2020. PMID: 32125660 No abstract available.
380 results