检索结果 - Darvish, Hossein

A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease 由 Jamshidi, Javad, Naderi, Hamed, Taghavi, Shaghayegh, Emamalizadeh, Babak, Darvish, Hossein

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XRCC1 and OGG1 Gene Polymorphisms and Breast Cancer: A Systematic Review of Literature 由 Sanjari Moghaddam, Ali, Nazarzadeh, Milad, Noroozi, Rezvan, Darvish, Hossein, Mosavi Jarrahi, Alireza

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Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals 由 Ahmadifard, Azadeh, Jamshidi, Javad, Tafakhori, Abbas, Mollazadeh, Reza, Falsafi, Zeinab, Darvish, Hossein

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Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients 由 Alehabib, Elham, Esmaeilizadeh, Zahra, Ranji-Burachaloo, Sakineh, Tafakhori, Abbas, Darvish, Hossein, Movafagh, Abolfazl

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Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia 由 Darvish, Hossein, Azcona, Luis J., Tafakhori, Abbas, Ahmadi, Mona, Ahmadifard, Azadeh, Paisán-Ruiz, Coro

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FABP9 Mutations Are Not Detected in Cases of Infertility due to Sperm Morphological Defects in Iranian Men 由 Jamshidi, Javad, Pouresmaeili, Farkhondeh, Darvish, Hossein, Omrani, Mir Davood, Azargashb, Eznollah, Sadeghi, Mohammad Reza, Lakpour, Niknam

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Molecular characterization of PRKN structural variations identified through whole‐genome sequencing 由 Bravo, Paloma, Darvish, Hossein, Tafakhori, Abbas, Azcona, Luis J., Johari, Amir Hossein, Jamali, Faezeh, Paisán‐Ruiz, Coro

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Identification of a large homozygous VPS13C deletion in a patient with early-onset parkinsonism 由 Darvish, Hossein, Bravo, Paloma, Tafakhori, Abbas, Azcona, Luis J., Ranji-Burachaloo, Sakineh, Johari, Amir Hossein, Paisán-Ruiz, Coro

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Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome 由 Ghaedi, Hamid, Ramsheh, Samira Molaei, Omidvar, Maryam Erfanian, Labbaf, Afsaneh, Alehabib, Elham, Akbari, Sanaz, Pourfatemi, Fatemeh, Darvish, Hossein

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Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism 由 Sanchez, Elena, Darvish, Hossein, Mesias, Roxana, Taghavi, Shaghyegh, Firouzabadi, Saghar Ghasemi, Walker, Ruth H., Tafakhori, Abbas, Paisán-Ruiz, Coro

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A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors 由 Darvish, Hossein, Azcona, Luis J., Alehabib, Elham, Jamali, Faezeh, Tafakhori, Abbas, Ranji-Burachaloo, Sakineh, Jen, Joanna C., Paisán-Ruiz, Coro

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Genetic screening in two Iranian families with early onset Alzheimer’s disease identified a novel PSEN1 mutation 由 Wang, Jen-Chyong, Alinaghia, Somayeh, Tafakhori, Abbas, Sikora, Elizabeth, Azcona, Luis J., Karkheiran, Siamak, Goate, Alison, Paisán-Ruiz, Coro, Darvish, Hossein

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Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy 由 Bakhtiari, Somayeh, Tafakhori, Abbas, Jin, Sheng Chih, Guida, Brandon S., Alehabib, Elham, Firouzbadi, Saghar, Bilguvar, Kaya, Fahey, Michael C., Darvish, Hossein, Kruer, Michael C.

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Monoamine Oxidase A Gene Polymorphisms and Bipolar Disorder in Iranian Population 由 Eslami Amirabadi, Mohammad Reza, Rajezi Esfahani, Sepideh, Davari-Ashtiani, Rozita, Khademi, Mojgan, Emamalizadeh, Babak, Movafagh, Abolfazl, Sadr, Said, Arabgol, Fariba, Darvish, Hossein, Razjoyan, Katayoon

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No Evidence for Association Between Norepinephrine Transporter-3081 (A/T) Polymorphism and Attention Deficit Hyperactivity Disorder in Iranian Population 由 Eslami Amirabadi, Mohammad Reza, Davari-Ashtiani, Rozita, Khademi, Mojgan, RajeziEsfahani, Sepideh, Emamalizadeh, Babak, Movafagh, Abolfazl, Arabgol, Fariba, Sadr, Said, Darvish, Hossein, Razjouyan, Katayoon

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Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson's Disease in the Iranian Population 由 Madadi, Faranak, Khaniani, Mahmoud Shekari, Shandiz, Ehsan Esmaili, Ayromlou, Hormoz, Najmi, Safa, Emamalizadeh, Babak, Taghavi, Shaghayegh, Jamshidi, Javad, Tafakhori, Abbas, Shahidi, Gholam-Ali, Darvish, Hossein

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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder 由 Mattioli, Francesca, Darvish, Hossein, Paracha, Sohail Aziz, Tafakhori, Abbas, Firouzabadi, Saghar Ghasemi, Chapi, Marjan, Baig, Hafiz Muhammad Azhar, Reymond, Alexandre, Antonarakis, Stylianos E., Ansar, Muhammad

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PTRHD1 (C2orf79) mutations lead to autosomal recessive intellectual disability and parkinsonism 由 Khodadadi, Hamidreza, Azcona, Luis J., Aghamollaii, Vajiheh, Omrani, Mir Davood, Garshasbi, Masoud, Taghavi, Shaghayegh, Tafakhori, Abbas, Shahidi, Gholam Ali, Jamshidi, Javad, Darvish, Hossein, Paisán-Ruiz, Coro

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Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD) 由 Alehabib, Elham, Jamshidi, Javad, Ghaedi, Hamid, Emamalizadeh, Babak, Andarva, Monavvar, Daftarian, Narsis, Rezaei Kanavi, Mozhgan, Mohammadi Torbati, Peyman, Espandar, Goldis, Alinaghi, Somayeh, Johari, Amir Hossein, Saghally, Mansoor, Mohajerani, Fatemeh, Darvish, Hossein

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PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life 由 Kokotović, Tomislav, Langeslag, Michiel, Lenartowicz, Ewelina M., Manion, John, Fell, Christopher W., Alehabib, Elham, Tafakhori, Abbas, Darvish, Hossein, Bellefroid, Eric J., Neely, G. Gregory, Kress, Michaela, Penninger, Josef M., Nagy, Vanja

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