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	21.	De novo and biallelic DEAF1 variants cause a phenotypic spectrum. [electronic resource] by Nabais Sá, Maria J Jensik, Philip J McGee, Stacey R Parker, Michael J Lahiri, Nayana McNeil, Evan P Kroes, Hester Y Hagerman, Randi J Harrison, Rachel E Montgomery, Tara Splitt, Miranda Palmer, Elizabeth E Sachdev, Rani K Mefford, Heather C Scott, Abbey A Martinez-Agosto, Julian A Lorenz, Rüdiger Orenstein, Naama Berg, Jonathan N Amiel, Jeanne Heron, Delphine Keren, Boris Cobben, Jan-Maarten Menke, Leonie A Marco, Elysa J Graham, John M Pierson, Tyler Mark Karimiani, Ehsan Ghayoor Maroofian, Reza Manzini, M Chiara Cauley, Edmund S Colombo, Roberto Odent, Sylvie Dubourg, Christele Phornphutkul, Chanika de Brouwer, Arjan P M de Vries, Bert B A Vulto-vanSilfhout, Anneke T Producer: 20200204 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency. [electronic resource] by Volpi, Stefano Cicalese, Maria Pia Tuijnenburg, Paul Tool, Anton T J Cuadrado, Eloy Abu-Halaweh, Marwan Ahanchian, Hamid Alzyoud, Raed Akdemir, Zeynep Coban Barzaghi, Federica Blank, Alexander Boisson, Bertrand Bottino, Cristina Brigida, Immacolata Caorsi, Roberta Casanova, Jean-Laurent Chiesa, Sabrina Chinn, Ivan Kingyue Dückers, Gregor Enders, Anselm Erichsen, Hans Christian Forbes, Lisa R Gambin, Tomasz Gattorno, Marco Karimiani, Ehsan Ghayoor Giliani, Silvia Gold, Michael S Jacobsen, Eva-Maria Jansen, Machiel H King, Jovanka R Laxer, Ronald M Lupski, James R Mace, Emily Marcenaro, Stefania Maroofian, Reza Meijer, Alexander B Niehues, Tim Notarangelo, Luigi D Orange, Jordan Pannicke, Ulrich Pearson, Chris Picco, Paolo Quinn, Patrick J Schulz, Ansgar Seeborg, Filiz Stray-Pedersen, Asbjørg Tawamie, Hasan van Leeuwen, Ester M M Aiuti, Alessandro Yeung, Rae Schwarz, Klaus Kuijpers, Taco W Producer: 20200608 In: The Journal of allergy and clinical immunology vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. [electronic resource] by Vandervore, Laura V Schot, Rachel Milanese, Chiara Smits, Daphne J Kasteleijn, Esmee Fry, Andrew E Pilz, Daniela T Brock, Stefanie Börklü-Yücel, Esra Post, Marco Bahi-Buisson, Nadia Sánchez-Soler, María José van Slegtenhorst, Marjon Keren, Boris Afenjar, Alexandra Coury, Stephanie A Tan, Wen-Hann Oegema, Renske de Vries, Linda S Fawcett, Katherine A Nikkels, Peter G J Bertoli-Avella, Aida Al Hashem, Amal Alwabel, Abdulmalik A Tlili-Graiess, Kalthoum Efthymiou, Stephanie Zafar, Faisal Rana, Nuzhat Bibi, Farah Houlden, Henry Maroofian, Reza Person, Richard E Crunk, Amy Savatt, Juliann M Turner, Lisbeth Doosti, Mohammad Karimiani, Ehsan Ghayoor Saadi, Nebal Waill Akhondian, Javad Lequin, Maarten H Kayserili, Hülya van der Spek, Peter J Jansen, Anna C Kros, Johan M Verdijk, Robert M Milošević, Nataša Jovanov Fornerod, Maarten Mastroberardino, Pier Giorgio Mancini, Grazia M S 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)
	24.	Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. [electronic resource] by Perenthaler, Elena Nikoncuk, Anita Yousefi, Soheil Berdowski, Woutje M Alsagob, Maysoon Capo, Ivan van der Linde, Herma C van den Berg, Paul Jacobs, Edwin H Putar, Darija Ghazvini, Mehrnaz Aronica, Eleonora van IJcken, Wilfred F J de Valk, Walter G Medici-van den Herik, Evita van Slegtenhorst, Marjon Brick, Lauren Kozenko, Mariya Kohler, Jennefer N Bernstein, Jonathan A Monaghan, Kristin G Begtrup, Amber Torene, Rebecca Al Futaisi, Amna Al Murshedi, Fathiya Mani, Renjith Al Azri, Faisal Kamsteeg, Erik-Jan Mojarrad, Majid Eslahi, Atieh Khazaei, Zaynab Darmiyan, Fateme Massinaei Doosti, Mohammad Karimiani, Ehsan Ghayoor Vandrovcova, Jana Zafar, Faisal Rana, Nuzhat Kandaswamy, Krishna K Hertecant, Jozef Bauer, Peter AlMuhaizea, Mohammed A Salih, Mustafa A Aldosary, Mazhor Almass, Rawan Al-Quait, Laila Qubbaj, Wafa Coskun, Serdar Alahmadi, Khaled O Hamad, Muddathir H A Alwadaee, Salem Awartani, Khalid Dababo, Anas M Almohanna, Futwan Colak, Dilek Dehghani, Mohammadreza Mehrjardi, Mohammad Yahya Vahidi Gunel, Murat Ercan-Sencicek, A Gulhan Passi, Gouri Rao Cheema, Huma Arshad Efthymiou, Stephanie Houlden, Henry Bertoli-Avella, Aida M Brooks, Alice S Retterer, Kyle Maroofian, Reza Kaya, Namik van Ham, Tjakko J Barakat, Tahsin Stefan Producer: 20210517 In: Acta neuropathologica vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)