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Borut Peterlin

Showing results (221-230 of 274) with videos related to

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Annals of Neurology|February 22, 2018
Mutations in SCN3A cause early infantile epileptic encephalopathyTariq Zaman, Ingo Helbig, Ivana Babić Božović, et al.
Orphanet Journal of Rare Diseases|December 19, 2022
Rare disease education in Europe and beyond: time to actBirute Tumiene, Harm Peters, Bela Melegh, et al.
The World Journal of Men'S Health|January 22, 2025
Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male InfertilityRebeka Podgrajsek, Alenka Hodzic, Ales Maver, et al.
Systems Biology in Reproductive Medicine|October 8, 2025
<i>ACE</i> gene and male infertility: a South Slavic case-control study and multi-omics data integrationTanja Kunej, Rebeka Podgrajsek, Helena Jaklic, et al.
Plos One|August 18, 2025
Microbial diversity in drug-naïve Parkinson's disease patientsEliša Papić, Valentino Rački, Mario Hero, et al.
Cold Spring Harbor Molecular Case Studies|July 15, 2022
A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathyAles Maver, Tamara Zigman, Ashraf Yusuf Rangrez, et al.
European Journal of Human Genetics : EJHG|August 15, 2013
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)Mireille Claustres, Viktor Kožich, Els Dequeker, et al.
Clinical Genetics|May 2, 2026
Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic AtrophyMarija Volk, Aleš Maver, Martina Jarc Vidmar, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Reply to Sajantila and BudowleDavid E Barton, Mireille Claustres, Viktor Kozich, et al.
Genes|June 27, 2024
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?Nikola Ilic, Nina Maric, Ales Maver, et al.
Pageof 28

Showing results (221-230 of 274) with videos related to

Sort By:
Pageof 28
Annals of Neurology|February 22, 2018
Mutations in SCN3A cause early infantile epileptic encephalopathyTariq Zaman, Ingo Helbig, Ivana Babić Božović, et al.
Orphanet Journal of Rare Diseases|December 19, 2022
Rare disease education in Europe and beyond: time to actBirute Tumiene, Harm Peters, Bela Melegh, et al.
The World Journal of Men'S Health|January 22, 2025
Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male InfertilityRebeka Podgrajsek, Alenka Hodzic, Ales Maver, et al.
Systems Biology in Reproductive Medicine|October 8, 2025
<i>ACE</i> gene and male infertility: a South Slavic case-control study and multi-omics data integrationTanja Kunej, Rebeka Podgrajsek, Helena Jaklic, et al.
Plos One|August 18, 2025
Microbial diversity in drug-naïve Parkinson's disease patientsEliša Papić, Valentino Rački, Mario Hero, et al.
Cold Spring Harbor Molecular Case Studies|July 15, 2022
A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathyAles Maver, Tamara Zigman, Ashraf Yusuf Rangrez, et al.
European Journal of Human Genetics : EJHG|August 15, 2013
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)Mireille Claustres, Viktor Kožich, Els Dequeker, et al.
Clinical Genetics|May 2, 2026
Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic AtrophyMarija Volk, Aleš Maver, Martina Jarc Vidmar, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Reply to Sajantila and BudowleDavid E Barton, Mireille Claustres, Viktor Kozich, et al.
Genes|June 27, 2024
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?Nikola Ilic, Nina Maric, Ales Maver, et al.
Pageof 28