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	1.	Personalised treatment of haematological malignancies through systems medicine based on single molecules in single cells. [electronic resource] by Karimiani, Ehsan Ghayoor Day, Philip Producer: 20131112 In: Integrative biology : quantitative biosciences from nano to macro vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Ophthalmic complications among cases of head trauma in north-eastern Iran. [electronic resource] by Ehsaei, Mohammad Reza Heidari, Mehrdad Karimiani, Ehsan Ghayoor Ehsaei, Asieh Producer: 20150212 In: International ophthalmology vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Single-cell analysis of K562 cells: an imatinib-resistant subpopulation is adherent and has upregulated expression of BCR-ABL mRNA and protein. [electronic resource] by Karimiani, Ehsan Ghayoor Marriage, Fiona Merritt, Anita J Burthem, John Byers, Richard John Day, Philip J R Producer: 20140513 In: Experimental hematology vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Mathematical modelling of miRNA mediated BCR.ABL protein regulation in chronic myeloid leukaemia vis-a-vis therapeutic strategies. [electronic resource] by Verma, Malkhey Karimiani, Ehsan Ghayoor Byers, Richard J Rehman, Samrina Westerhoff, Hans V Day, Philip J R Producer: 20130924 In: Integrative biology : quantitative biosciences from nano to macro vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Microfluidic channel-assisted screening of hematopoietic malignancies. [electronic resource] by Mughal, Farah Baldock, Sara J Karimiani, Ehsan Ghayoor Telford, Nick Goddard, Nicholas J Day, Philip J R Producer: 20141002 In: Genes, chromosomes & cancer vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	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. [electronic resource] by Najafi, Maryam Kordi-Tamandani, Dor Mohammad Behjati, Farkhondeh Sadeghi-Bojd, Simin Bakey, Zeineb Karimiani, Ehsan Ghayoor Schüle, Isabel Azarfar, Anoush Schmidts, Miriam Producer: 20190419 In: Orphanet journal of rare diseases vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report. [electronic resource] by Lekszas, Caroline Nanda, Indrajit Vona, Barbara Böck, Julia Ashrafzadeh, Farah Donyadideh, Nahid Ebrahimzadeh, Farnoosh Ahangari, Najmeh Maroofian, Reza Karimiani, Ehsan Ghayoor Haaf, Thomas Producer: 20200106 In: BMC medical genomics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the [electronic resource] by Najafi, Maryam Tamandani, Dor Mohammad Kordi Azarfar, Anoush Bakey, Zeineb Behjati, Farkhondeh Antony, Dinu Schüle, Isabel Sadeghi-Bojd, Simin Karimiani, Ehsan Ghayoor Schmidts, Miriam Publication details: Frontiers in pediatrics 2019 In: Frontiers in pediatrics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma. [electronic resource] by Ayatollahi, Hossein Sadeghian, Mohammad Hadi Keramati, Mohammad Reza Karimiani, Ehsan Ghayoor Jafarian, Amir Hossein Shirdel, Abbas Rahimi, Hossein Zangane-Far, Mohammad Esmaeel Shajiei, Arezoo Sheikhi, Maryam Publication details: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion Dec 2016 In: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Study of the mechanisms of crocetin-induced differentiation and apoptosis in human acute promyelocytic leukemia cells. [electronic resource] by Moradzadeh, Maliheh Ghorbani, Ahmad Erfanian, Saiedeh Mohaddes, Seyedeh Tahereh Rahimi, Hossein Karimiani, Ehsan Ghayoor Mashkani, Baratali Chiang, Shih-Chieh El-Khamisy, Sherif F Tabarraei, Alijan Sadeghnia, Hamid Reza Publication details: Journal of cellular biochemistry Feb 2019 In: Journal of cellular biochemistry vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Expanding the clinical phenotype of IARS2-related mitochondrial disease. [electronic resource] by Vona, Barbara Maroofian, Reza Bellacchio, Emanuele Najafi, Maryam Thompson, Kyle Alahmad, Ahmad He, Langping Ahangari, Najmeh Rad, Abolfazl Shahrokhzadeh, Sima Bahena, Paulina Mittag, Falk Traub, Frank Movaffagh, Jebrail Amiri, Nafise Doosti, Mohammad Boostani, Reza Shirzadeh, Ebrahim Haaf, Thomas Diodato, Daria Schmidts, Miriam Taylor, Robert W Karimiani, Ehsan Ghayoor Producer: 20190522 In: BMC medical genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia. [electronic resource] by Oosterhof, Nynke Chang, Irene J Karimiani, Ehsan Ghayoor Kuil, Laura E Jensen, Dana M Daza, Ray Young, Erica Astle, Lee van der Linde, Herma C Shivaram, Giridhar M Demmers, Jeroen Latimer, Caitlin S Keene, C Dirk Loter, Emily Maroofian, Reza van Ham, Tjakko J Hevner, Robert F Bennett, James T Producer: 20200206 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. [electronic resource] by Hedberg-Oldfors, Carola Abramsson, Alexandra Osborn, Daniel P S Danielsson, Olof Fazlinezhad, Afsoon Nilipour, Yalda Hübbert, Laila Nennesmo, Inger Visuttijai, Kittichate Bharj, Jaipreet Petropoulou, Evmorfia Shoreim, Azza Vona, Barbara Ahangari, Najmeh López, Marcela Dávila Doosti, Mohammad Banote, Rakesh Kumar Maroofian, Reza Edling, Malin Taherpour, Mehdi Zetterberg, Henrik Karimiani, Ehsan Ghayoor Oldfors, Anders Jamshidi, Yalda Producer: 20200206 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. [electronic resource] by Karakaya, Mert Storbeck, Markus Strathmann, Eike A Delle Vedove, Andrea Hölker, Irmgard Altmueller, Janine Naghiyeva, Leyla Schmitz-Steinkrüger, Lea Vezyroglou, Katharina Motameny, Susanne Alawbathani, Salem Thiele, Holger Polat, Ayse Ipek Okur, Derya Boostani, Reza Karimiani, Ehsan Ghayoor Wunderlich, Gilbert Ardicli, Didem Topaloglu, Haluk Kirschner, Janbernd Schrank, Bertold Maroofian, Reza Magnusson, Olafur Yis, Uluc Nürnberg, Peter Heller, Raoul Wirth, Brunhilde Producer: 20190726 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. [electronic resource] by Dubail, Johanne Huber, Céline Chantepie, Sandrine Sonntag, Stephan Tüysüz, Beyhan Mihci, Ercan Gordon, Christopher T Steichen-Gersdorf, Elisabeth Amiel, Jeanne Nur, Banu Stolte-Dijkstra, Irene van Eerde, Albertien M van Gassen, Koen L Breugem, Corstiaan C Stegmann, Alexander Lekszas, Caroline Maroofian, Reza Karimiani, Ehsan Ghayoor Bruneel, Arnaud Seta, Nathalie Munnich, Arnold Papy-Garcia, Dulce De La Dure-Molla, Muriel Cormier-Daire, Valérie Producer: 20190107 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. [electronic resource] by Lee, Sangmoon Chen, Dillon Y Zaki, Maha S Maroofian, Reza Houlden, Henry Di Donato, Nataliya Abdin, Dalia Morsy, Heba Mirzaa, Ghayda M Dobyns, William B McEvoy-Venneri, Jennifer Stanley, Valentina James, Kiely N Mancini, Grazia M S Schot, Rachel Kalayci, Tugba Altunoglu, Umut Karimiani, Ehsan Ghayoor Brick, Lauren Kozenko, Mariya Jamshidi, Yalda Manzini, M Chiara Beiraghi Toosi, Mehran Gleeson, Joseph G Producer: 20200402 In: American journal of human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [electronic resource] by Chatron, Nicolas Becker, Felicitas Morsy, Heba Schmidts, Miriam Hardies, Katia Tuysuz, Beyhan Roselli, Sandra Najafi, Maryam Alkaya, Dilek Uludag Ashrafzadeh, Farah Nabil, Amira Omar, Tarek Maroofian, Reza Karimiani, Ehsan Ghayoor Hussien, Haytham Kok, Fernando Ramos, Luiza Gunes, Nilay Bilguvar, Kaya Labalme, Audrey Alix, Eudeline Sanlaville, Damien de Bellescize, Julitta Poulat, Anne-Lise Moslemi, Ali-Reza Lerche, Holger May, Patrick Lesca, Gaetan Weckhuysen, Sarah Tajsharghi, Homa Producer: 20201214 In: Brain : a journal of neurology vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Biallelic variants in KIF14 cause intellectual disability with microcephaly. [electronic resource] by Makrythanasis, Periklis Maroofian, Reza Stray-Pedersen, Asbjørg Musaev, Damir Zaki, Maha S Mahmoud, Iman G Selim, Laila Elbadawy, Amera Jhangiani, Shalini N Coban Akdemir, Zeynep H Gambin, Tomasz Sorte, Hanne S Heiberg, Arvid McEvoy-Venneri, Jennifer James, Kiely N Stanley, Valentina Belandres, Denice Guipponi, Michel Santoni, Federico A Ahangari, Najmeh Tara, Fatemeh Doosti, Mohammad Iwaszkiewicz, Justyna Zoete, Vincent Backe, Paul Hoff Hamamy, Hanan Gleeson, Joseph G Lupski, James R Karimiani, Ehsan Ghayoor Antonarakis, Stylianos E Producer: 20181221 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination. [electronic resource] by Efthymiou, Stephanie Salpietro, Vincenzo Malintan, Nancy Poncelet, Mallory Kriouile, Yamna Fortuna, Sara De Zorzi, Rita Payne, Katelyn Henderson, Lindsay B Cortese, Andrea Maddirevula, Sateesh Alhashmi, Nadia Wiethoff, Sarah Ryten, Mina Botia, Juan A Provitera, Vincenzo Schuelke, Markus Vandrovcova, Jana Walsh, Laurence Torti, Erin Iodice, Valeria Najafi, Maryam Karimiani, Ehsan Ghayoor Maroofian, Reza Siquier-Pernet, Karine Boddaert, Nathalie De Lonlay, Pascale Cantagrel, Vincent Aguennouz, Mhammed El Khorassani, Mohamed Schmidts, Miriam Alkuraya, Fowzan S Edvardson, Simon Nolano, Maria Devaux, Jérôme Houlden, Henry Producer: 20200615 In: Brain : a journal of neurology vol. 142 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. [electronic resource] by Rehman, Atteeq U Najafi, Maryam Kambouris, Marios Al-Gazali, Lihadh Makrythanasis, Periklis Rad, Abolfazl Maroofian, Reza Rajab, Anna Stark, Zornitza Hunter, Jill V Bakey, Zeineb Tokita, Mari J He, Weimin Vetrini, Francesco Petersen, Andrea Santoni, Federico A Hamamy, Hanan Wu, Kaman Al-Jasmi, Fatma Helmstädter, Martin Arnold, Sebastian J Xia, Fan Richmond, Christopher Liu, Pengfei Karimiani, Ehsan Ghayoor Karami Madani, GholamReza Lunke, Sebastian El-Shanti, Hatem Eng, Christine M Antonarakis, Stylianos E Hertecant, Jozef Walkiewicz, Magdalena Yang, Yaping Schmidts, Miriam Producer: 20200323 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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