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  1. Najafi, Maryam [Author]; Kordi-Tamandani, Dor Mohammad [Author]; Azarfar, Anoush [Author]; Bakey, Zeineb [Author]; Behjati, Farkhondeh [Author]; Antony, Dinu [Author]; Schüle, Isabel [Author]; Sadeghi-Bojd, Simin [Author]; Karimiani, Ehsan Ghayoor [Author]; Schmidts, Miriam [Author]

    A 57 kB genomic deletion causing CTNS loss of function contributes to the CTNS mutational spectrum in the Middle East

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    Lausanne: Frontiers Media, 2019

    Published in: Frontiers in pediatrics ; 7 (2019), 89

  2. Najafi, Maryam [Author]; Kordi-Tamandani, Dor Mohammad [Author]; Behjati, Farkhondeh [Author]; Sadeghi-Bojd, Simin [Author]; Bakey, Zeineb [Author]; Karimiani, Ehsan Ghayoor [Author]; Schüle, Isabel [Author]; Azarfar, Anoush [Author]; Schmidts, Miriam [Author]

    Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

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    London: BioMed Central, 2019

    Published in: Orphanet journal of rare dise ; 14, 1 (2019), 41$z1750-1172

  3. Nagy, Sara [Author]; Lau, Tracy [Author]; Alavi, Shahryar [Author]; Karimiani, Ehsan Ghayoor [Author]; Vallian, Jalal [Author]; Ng, Bobby G. [Author]; Noroozi Asl, Samaneh [Author]; Akhondian, Javad [Author]; Bahreini, Amir [Author]; Yaghini, Omid [Author]; Uapinyoying, Prech [Author]; Boennemann, Carsten G. [Author]; Freeze, Hudson H. [Author]; Dissanayake, Vajira H. W. [Author]; Sirisena, Nirmala D. [Author]; Schmidts, Miriam [Author]; Houlden, Henry [Author]; Moreno‐De‐Luca, Andres [Author]; Maroofian, Reza [Author]

    A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

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    Oxford: Wiley, 2022

    Published in: Clinical genetics ; 102, 6 (2022), 530-536

  4. Vona, Barbara [Author]; Maroofian, Reza [Author]; Bellacchio, Emanuele [Author]; Najafi, Maryam [Author]; Thompson, Kyle [Author]; Alahmad, Ahmad [Author]; He, Langping [Author]; Ahangari, Najmeh [Author]; Rad, Abolfazl [Author]; Shahrokhzadeh, Sima [Author]; Bahena, Paulina [Author]; Mittag, Falk [Author]; Traub, Frank [Author]; Movaffagh, Jebrail [Author]; Amiri, Nafise [Author]; Doosti, Mohammad [Author]; Boostani, Reza [Author]; Shirzadeh, Ebrahim [Author]; Haaf, Thomas [Author]; Diodato, Daria [Author]; Schmidts, Miriam [Author]; Taylor, Robert W. [Author]; Karimiani, Ehsan Ghayoor [Author]

    Expanding the clinical phenotype of IARS2-related mitochondrial disease

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    London: Springer Nature America, Inc, 2018

    Published in: BMC medical genetics ; 19, 1 (2018), 196

  5. Rehman, Atteeq U. [Author]; Najafi, Maryam [Author]; Kambouris, Marios [Author]; Al-Gazali, Lihadh [Author]; Makrythanasis, Periklis [Author]; Rad, Abolfazl [Author]; Maroofian, Reza [Author]; Rajab, Anna [Author]; Stark, Zornitza [Author]; Hunter, Jill V. [Author]; Bakey, Zeineb [Author]; Tokita, Mari J. [Author]; He, Weimin [Author]; Vetrini, Francesco [Author]; Petersen, Andrea [Author]; Santoni, Federico A. [Author]; Hamamy, Hanan [Author]; Wu, Kaman [Author]; Jasmi, Fatma Al [Author]; Helmstädter, Martin [Author]; Arnold, Sebastian Johannes [Author]; Xia, Fan [Author]; Richmond, Christopher [Author]; Liu, Pengfei [Author]; [...]

    Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

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    New York, NY [u.a.]: Wiley, 2019

    Published in: Human mutation ; 40, 3 (2019), 267-280

  19. Ashrafzadeh, Farah; Zabolinejad, Naghmeh; Ghayoor Karimiani, Ehsan; Beiraghi Toosi, Mehran; Doniadideh, Nahid; Torabi, Shatila; Razmyar, Mohammad; Sheikh Andalibi, Mohammad S.

    The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation

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    Wiley, 2018

    Published in: International Journal of Dermatology, 57 (2018) 10, Seite 1242-1245

  20. Hossein Ayatollahi; Azar Fani; Ehsan Ghayoor Karimiani; Fateme Homaee; Arezoo Shajiei; Maryam Sheikh; Sepideh Shakeri; Seyyede Fatemeh Shams

    Chromogenic in situ Hybridization Compared with Real Time Quantitative Polymerase Chain Reaction to Evaluate HER2/neu Status in Breast Cancer

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    2017

    Published in: Iranian Journal of Pathology, 12 (2017) 2, Seite 128-134