X-linked SCID with a rare mutation
Mahdavi, Fatemeh Sadat, Keramatipour, Mohammad, Ansari, Sarina, Sharafian, Samin, Karamzade, Arezou, Tavakol, Marzieh
Published in Allergy, asthma, and clinical immunology (11.10.2021)
Published in Allergy, asthma, and clinical immunology (11.10.2021)
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Journal Article
Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum
Karamzade, Arezou, Babaei, Meisam, Saberi, Mohammad, Golchin, Neda, Khalil Nejad Sani Banaei, Aysun, Eshaghkhani, Yeganeh, Golchehre, Zahra, Keramatipour, Mohammad
Published in Molecular biology reports (01.06.2021)
Published in Molecular biology reports (01.06.2021)
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Journal Article
A rare immunological disease, caspase 8 deficiency: case report and literature review
Bazgir, Narges, Tahvildari, Azin, Chavoshzade, Zahra, Jamee, Mahnaz, Golchehre, Zahra, Karimi, Abdollah, Dara, Naghi, Fallahi, Mazdak, Keramatipour, Mohammad, Karamzade, Arezou, Sharafian, Samin
Published in Allergy, asthma, and clinical immunology (10.04.2023)
Published in Allergy, asthma, and clinical immunology (10.04.2023)
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Journal Article
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
Latour, Brooke L, Van De Weghe, Julie C, Rusterholz, Tamara Ds, Letteboer, Stef Jf, Gomez, Arianna, Shaheen, Ranad, Gesemann, Matthias, Karamzade, Arezou, Asadollahi, Mostafa, Barroso-Gil, Miguel, Chitre, Manali, Grout, Megan E, van Reeuwijk, Jeroen, van Beersum, Sylvia Ec, Miller, Caitlin V, Dempsey, Jennifer C, Morsy, Heba, Bamshad, Michael J, Nickerson, Deborah A, Neuhauss, Stephan Cf, Boldt, Karsten, Ueffing, Marius, Keramatipour, Mohammad, Sayer, John A, Alkuraya, Fowzan S, Bachmann-Gagescu, Ruxandra, Roepman, Ronald, Doherty, Dan
Published in The Journal of clinical investigation (01.08.2020)
Published in The Journal of clinical investigation (01.08.2020)
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Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis, and Bilateral Chorioretinal Atrophy in a Patient with Homozygous p.G75S Variant in CLDN19
Rahmani, Nasim, Talebi, Saeed, Hooman, Nakysa, Karamzade, Arezou
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2021)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2021)
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Journal Article
First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene
Saberi, Mohammad, Golchehre, Zahra, Salmani, Hamzeh, Karamzade, Arezou, Tabatabaie, Seyed Ziaeddin, Keramatipour, Mohammad
Published in International journal of pediatric otorhinolaryngology (01.10.2018)
Published in International journal of pediatric otorhinolaryngology (01.10.2018)
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Journal Article
A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature
Nourmohammadi, Parisa, Asadollahi, Mostafa, Karamzade, Arezou, Eshaghkhani, Yeganeh, Babaei, Meisam, Golchehre, Zahra, Taheri, Seyedeh Roksana, Hasani, Sepideh, Taghizadeh, Mahdieh, Keramatipour, Mohammad
Published in Journal of genetics (07.08.2023)
Published in Journal of genetics (07.08.2023)
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Journal Article
Succinate Dehydrogenase Deficiency: A Treatable Neurometabolic Disorder
Karimzadeh, Parvaneh, Keramatipour, Mohammad, Karamzade, Arezou, Pourbakhtyaran, Elham
Published in Iranian journal of child neurology (01.10.2020)
Published in Iranian journal of child neurology (01.10.2020)
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Journal Article
Next generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families: two novel pathogenic variants in BBS9 gene
Akbaroghli, Susan, Kooshavar, Daniz, Golchehre, Zahra, Karamzade, Arezou, Saberi, Mohammad, Alaei, Mohammad Reza, Sadegh, Masoud Abbasi, Asadollahi, Mostafa, Keramatipour, Mohammad
Published in Iranian journal of child neurology (01.01.2022)
Published in Iranian journal of child neurology (01.01.2022)
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Journal Article
Whole-Exome Sequencing Identified a Novel Variant (C.405_422+39del) in DSP Gene in an Iranian Pedigree with Familial Dilated Cardiomyopathy
Eshaghkhani, Yeganeh, Mohamadifar, Arezoo, Asadollahi, Mostafa, Taghizadeh, Mahdieh, Karamzade, Arezou, Saberi, Mohammad, Nourmohammadi, Parisa, Golchehre, Zahra, Amin, Ahmad, Keramatipour, Mohammad
Published in Reports of biochemistry and molecular biology (01.07.2021)
Published in Reports of biochemistry and molecular biology (01.07.2021)
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Journal Article
Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families
Akbaroghli, Susan, Kooshavar, Daniz, Golchehre, Zahra, Karamzade, Arezou, Saberi, Mohammad, Alaei, Mohammad Reza, Abbasi Sadegh, Masoud, Asadollahi, Mostafa, Keramatipour, Mohammad
Published in Iranian journal of child neurology (01.01.2022)
Published in Iranian journal of child neurology (01.01.2022)
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Journal Article
CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum
Saberi, Mohammad, Golchehre, Zahra, Karamzade, Arezou, Entezam, Mona, Eshaghkhani, Yeganeh, Alavinejad, Elaheh, Khojasteh Jafari, Hassan, Keramatipour, Mohammad
Published in Iranian biomedical journal (01.09.2019)
Published in Iranian biomedical journal (01.09.2019)
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Journal Article
CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum
Saberi, Mohammad, Golchehre, Zahra, Karamzade, Arezou, Entezam, Mona, Eshaghkhani, Yeganeh, Alavinejad, Elaheh, Khojasteh Jafari, Hassan, Keramatipour, Mohammad
Published in Iranian biomedical journal (01.09.2019)
Published in Iranian biomedical journal (01.09.2019)
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Journal Article