Peterlin B - Search Results

1

Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.

Kovanda A, Lovrečić L, Rudolf G, Babic Bozovic I, Jaklič H, Leonardis L, Peterlin B. Kovanda A, et al. Among authors: peterlin b. Genes (Basel). 2023 Nov 30;14(12):2166. doi: 10.3390/genes14122166. Genes (Basel). 2023. PMID: 38136988 Free PMC article.

2

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.

3

Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge.

Rogac M, Kovanda A, Lovrečić L, Peterlin B. Rogac M, et al. Among authors: peterlin b. Front Genet. 2023 Jul 25;14:1173426. doi: 10.3389/fgene.2023.1173426. eCollection 2023. Front Genet. 2023. PMID: 37560384 Free PMC article.

4

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.

5

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.

6

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.

7

Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson's disease and monogenic dystonia: a multidisciplinary team perspective.

Rački V, Hero M, Papić E, Rožmarić G, Čizmarević NS, Chudy D, Peterlin B, Vuletić V. Rački V, et al. Among authors: peterlin b. Front Neurosci. 2023 Nov 10;17:1282267. doi: 10.3389/fnins.2023.1282267. eCollection 2023. Front Neurosci. 2023. PMID: 38027472 Free PMC article.

8

Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant.

Petrović Pajić S, Suštar Habjan M, Brecelj J, Fakin A, Volk M, Maver A, Jezernik G, Peterlin B, Glavač D, Hawlina M, Jarc-Vidmar M. Petrović Pajić S, et al. Among authors: peterlin b. J Neuroophthalmol. 2023 Sep 1;43(3):341-347. doi: 10.1097/WNO.0000000000001820. Epub 2023 Mar 10. J Neuroophthalmol. 2023. PMID: 36897664

9

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder.

Writzl K, Mavčič B, Maver A, Hodžić A, Peterlin B. Writzl K, et al. Among authors: peterlin b. Front Genet. 2023 Jul 18;14:1167054. doi: 10.3389/fgene.2023.1167054. eCollection 2023. Front Genet. 2023. PMID: 37533431 Free PMC article.

10

Rare disease education in Europe and beyond: time to act.

Tumiene B, Peters H, Melegh B, Peterlin B, Utkus A, Fatkulina N, Pfliegler G, Graessner H, Hermanns S, Scarpa M, Blay JY, Ashton S, McKay L, Baynam G. Tumiene B, et al. Among authors: peterlin b. Orphanet J Rare Dis. 2022 Dec 19;17(1):441. doi: 10.1186/s13023-022-02527-y. Orphanet J Rare Dis. 2022. PMID: 36536417 Free PMC article.

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