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Reza Maroofian

Showing results (1-10 of 276) with videos related to

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Molecular Syndromology|September 8, 2017
A Novel Loss-of-Function Mutation in <i>HOXB1</i> Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian FamilyMohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Seyed M Kalantar, et al.
Journal of Pediatric Gastroenterology and Nutrition|May 23, 2020
NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver FailureRyan W Himes, Majid Mojarrad, Atieh Eslahi, et al.
European Journal of Medical Genetics|June 24, 2017
Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathyEvmorfia Petropoulou, Mohammadhossein Soltani, Ali Dehghani Firoozabadi, et al.
Kidney International Reports|November 20, 2018
Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an <i>NEU1</i> Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the ChildReza Maroofian, Isabel Schuele, Maryam Najafi, et al.
Molecular Syndromology|February 20, 2018
Novel Homozygous Missense Mutation in <i>RYR1</i> Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of MyopathyNafi Dilaver, Neda Mazaheri, Reza Maroofian, et al.
Biorxiv : the Preprint Server for Biology|January 13, 2025
<i>Parp1</i> deletion rescues cerebellar hypotrophy in <i>xrcc1</i> mutant zebrafishSvetlana A Semenova, Deepthi Nammi, Grace A Garrett, et al.
Canadian Journal of Diabetes|August 28, 2017
A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal DiabetesFarzaneh Abbasi, Maryam Habibi, Samaneh Enayati, et al.
Scientific Reports|May 16, 2025
Parp1 deletion rescues cerebellar hypotrophy in xrcc1 mutant zebrafishSvetlana A Semenova, Deepthi Nammi, Grace B Garrett, et al.
European Journal of Medical Genetics|March 17, 2018
Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesityMohammad Reza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Nafi Dilaver, et al.
BMC Medical Genomics|June 9, 2019
Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case reportCaroline Lekszas, Indrajit Nanda, Barbara Vona, et al.
Pageof 28

Showing results (1-10 of 276) with videos related to

Sort By:
Pageof 28
Molecular Syndromology|September 8, 2017
A Novel Loss-of-Function Mutation in <i>HOXB1</i> Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian FamilyMohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Seyed M Kalantar, et al.
Journal of Pediatric Gastroenterology and Nutrition|May 23, 2020
NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver FailureRyan W Himes, Majid Mojarrad, Atieh Eslahi, et al.
European Journal of Medical Genetics|June 24, 2017
Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathyEvmorfia Petropoulou, Mohammadhossein Soltani, Ali Dehghani Firoozabadi, et al.
Kidney International Reports|November 20, 2018
Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an <i>NEU1</i> Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the ChildReza Maroofian, Isabel Schuele, Maryam Najafi, et al.
Molecular Syndromology|February 20, 2018
Novel Homozygous Missense Mutation in <i>RYR1</i> Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of MyopathyNafi Dilaver, Neda Mazaheri, Reza Maroofian, et al.
Biorxiv : the Preprint Server for Biology|January 13, 2025
<i>Parp1</i> deletion rescues cerebellar hypotrophy in <i>xrcc1</i> mutant zebrafishSvetlana A Semenova, Deepthi Nammi, Grace A Garrett, et al.
Canadian Journal of Diabetes|August 28, 2017
A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal DiabetesFarzaneh Abbasi, Maryam Habibi, Samaneh Enayati, et al.
Scientific Reports|May 16, 2025
Parp1 deletion rescues cerebellar hypotrophy in xrcc1 mutant zebrafishSvetlana A Semenova, Deepthi Nammi, Grace B Garrett, et al.
European Journal of Medical Genetics|March 17, 2018
Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesityMohammad Reza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Nafi Dilaver, et al.
BMC Medical Genomics|June 9, 2019
Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case reportCaroline Lekszas, Indrajit Nanda, Barbara Vona, et al.
Pageof 28