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

628 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A Novel Variant in the LIPA Gene Associated with Distinct Phenotype.
Sarajlija A, Armengol L, Maver A, Kitic I, Prokic D, Cehic M, Djuricic MS, Peterlin B. Sarajlija A, et al. Among authors: peterlin b. Balkan J Med Genet. 2023 Mar 1;25(1):93-100. doi: 10.2478/bjmg-2022-0010. eCollection 2022 Jun. Balkan J Med Genet. 2023. PMID: 36880034 Free PMC article.
Oral microbiome and preterm birth.
Vidmar Šimic M, Maver A, Zimani AN, Hočevar K, Peterlin B, Kovanda A, Premru-Sršen T. Vidmar Šimic M, et al. Among authors: peterlin b. Front Med (Lausanne). 2023 Aug 7;10:1177990. doi: 10.3389/fmed.2023.1177990. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37608830 Free PMC article.
Preimplantation Genetic Testing within the Public Healthcare System in Slovenia.
Volk M, Writzl K, Veble A, Jaklič H, Teran N, Prosenc B, Štimpfel M, Virant Klun I, Vrtačnik Bokal E, Ban Frangež H, Peterlin B. Volk M, et al. Among authors: peterlin b. Balkan J Med Genet. 2024 Mar 12;26(2):5-10. doi: 10.2478/bjmg-2023-0017. eCollection 2023 Dec. Balkan J Med Genet. 2024. PMID: 38482262 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
The genetic approach to stillbirth: A »systematic review«.
Dolanc Merc M, Peterlin B, Lovrecic L. Dolanc Merc M, et al. Among authors: peterlin b. Prenat Diagn. 2023 Aug;43(9):1220-1228. doi: 10.1002/pd.6354. Epub 2023 May 11. Prenat Diagn. 2023. PMID: 37072878 Review.
628 results