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Borut Peterlin

Showing results (241-250 of 274) with videos related to

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American Journal of Medical Genetics. Part A|September 17, 2013
Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sampleAnne C Böhmer, Elisabeth Mangold, Peter Tessmann, et al.
Journal of Community Genetics|September 28, 2017
The challenges of the expanded availability of genomic information: an agenda-setting paperPascal Borry, Heidi Beate Bentzen, Isabelle Budin-Ljøsne, et al.
Scientific Reports|June 18, 2017
Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosisAles Maver, Polona Lavtar, Smiljana Ristić, et al.
Genes|January 25, 2025
Atypical Leber Hereditary Optic Neuropathy (LHON) Associated with a Novel MT-CYB:m.15309T>C(Ile188Thr) VariantSanja Petrovic Pajic, Ana Fakin, Martina Jarc-Vidmar, et al.
European Journal of Human Genetics : EJHG|October 13, 2017
Responsible implementation of expanded carrier screeningLidewij Henneman, Pascal Borry, Davit Chokoshvili, et al.
Genes|May 4, 2026
Enrichment of Rare Variants in Nuclear-Encoded Mitochondrial Metabolism Genes in Patients with Early-Onset or Familial Parkinson's DiseaseGaber Bergant, Vesna M van Midden, Polina Tsygankova, et al.
European Journal of Human Genetics : EJHG|March 17, 2016
Responsible implementation of expanded carrier screeningLidewij Henneman, Pascal Borry, Davit Chokoshvili, et al.
European Journal of Human Genetics : EJHG|June 4, 2015
Towards a European consensus for reporting incidental findings during clinical NGS testingJayne Y Hehir-Kwa, Mireille Claustres, Ros J Hastings, et al.
Neurology|September 17, 2017
Analysis of blood-based gene expression in idiopathic Parkinson diseaseRon Shamir, Christine Klein, David Amar, et al.
Journal of Medical Genetics|October 14, 2022
Heterozygous pathogenic variants involving <i>CBFB</i> cause a new skeletal disorder resembling cleidocranial dysplasiaTessi Beyltjens, Eveline Boudin, Nicole Revencu, et al.
Pageof 28

Showing results (241-250 of 274) with videos related to

Sort By:
Pageof 28
American Journal of Medical Genetics. Part A|September 17, 2013
Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sampleAnne C Böhmer, Elisabeth Mangold, Peter Tessmann, et al.
Journal of Community Genetics|September 28, 2017
The challenges of the expanded availability of genomic information: an agenda-setting paperPascal Borry, Heidi Beate Bentzen, Isabelle Budin-Ljøsne, et al.
Scientific Reports|June 18, 2017
Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosisAles Maver, Polona Lavtar, Smiljana Ristić, et al.
Genes|January 25, 2025
Atypical Leber Hereditary Optic Neuropathy (LHON) Associated with a Novel MT-CYB:m.15309T>C(Ile188Thr) VariantSanja Petrovic Pajic, Ana Fakin, Martina Jarc-Vidmar, et al.
European Journal of Human Genetics : EJHG|October 13, 2017
Responsible implementation of expanded carrier screeningLidewij Henneman, Pascal Borry, Davit Chokoshvili, et al.
Genes|May 4, 2026
Enrichment of Rare Variants in Nuclear-Encoded Mitochondrial Metabolism Genes in Patients with Early-Onset or Familial Parkinson's DiseaseGaber Bergant, Vesna M van Midden, Polina Tsygankova, et al.
European Journal of Human Genetics : EJHG|March 17, 2016
Responsible implementation of expanded carrier screeningLidewij Henneman, Pascal Borry, Davit Chokoshvili, et al.
European Journal of Human Genetics : EJHG|June 4, 2015
Towards a European consensus for reporting incidental findings during clinical NGS testingJayne Y Hehir-Kwa, Mireille Claustres, Ros J Hastings, et al.
Neurology|September 17, 2017
Analysis of blood-based gene expression in idiopathic Parkinson diseaseRon Shamir, Christine Klein, David Amar, et al.
Journal of Medical Genetics|October 14, 2022
Heterozygous pathogenic variants involving <i>CBFB</i> cause a new skeletal disorder resembling cleidocranial dysplasiaTessi Beyltjens, Eveline Boudin, Nicole Revencu, et al.
Pageof 28