Зохиогчийн хайлтын үр дүн :: APM

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Guidelines for acute management of hyperammonemia in the Middle East region -н Majid Alfadhel, Fuad Al Mutairi, Nawal Makhseed, Fatma Al Jasmi, Khalid Al‐Thihli, Emtithal Aljishi, Moeen Al-Sayed, Zuhair N. Al‐Hassnan, Fathiya Al Murshedi, Johannes Häberle, Tawfeg Ben‐Omran

Хэвлэсэн 2016

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Artigo

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2

<i>EPG5</i>-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy -н Susan Byrne, Max Janse, Jean-Marie U-King-Im, Ata Siddiqui, Hart G.W. Lidov, István Bódi, Luke J. Smith, R. Mein, Thomas Cullup, Carlo Dionisi‐Vici, Lihadh Al‐Gazali, Mohammed Al‐Owain, Zandrè Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni‐Baruch, Hanna Mandel, Efrat Dagan, Annick Raas‐Rothschild, Hila Barash, Francis Filloux, Donnell J. Creel, Michael A. Harris, Ada Hamosh, Stefan Kölker, Darius Ebrahimi‐Fakhari, Georg F. Hoffmann, David K. Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenço, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline A. Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel, Heinz Jungbluth

Хэвлэсэн 2016

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Artigo

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3

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights -н Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac, Nicole I. Wolf, Autumn S. Ivy, Scott Demarest, Yann Roussel, Jolita Čiapaitė, Carlo W.T. van Roermund, Kristin D. Kernohan, Ceres Kosuta, Kevin Ban, Yoko Itō, Skye McBride, Khalid Al‐Thihli, Rana Abdelrahim, Roshan Koul, Amna Al‐Futaisi, Charlotte A. Haaxma, Heather E. Olson, Laufey Yr Sigurdardottir, Georgianne L. Arnold, Erica H. Gerkes, M. E. Boon, M. Rebecca Heiner‐Fokkema, Sandra Noble, Marjolein Bosma, Judith Jans, David A. Koolen, Erik-Jan Kamsteeg, Britt I. Drögemöller, Colin J.D. Ross, Jacek Majewski, Megan T. Cho, Amber Begtrup, Wyeth W. Wasserman, Tuan V. Bui, Elise Brimble, Sara Violante, Sander M. Houten, Ron A. Wevers, Martijn van Faassen, Ido P. Kema, Nathalie Lepage, Matthew A. Lines, David A. Dyment, Ronald J. A. Wanders, Nanda M. Verhoeven‐Duif, Marc Ekker, Kym M. Boycott, Jan M. Friedman, Izabella A. Pena, Clara D.M. van Karnebeek

Хэвлэсэн 2018

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Artigo

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4

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire -н Sarah C. Grünert, Terry G. J. Derks, Katarina Adrian, Khalid Al‐Thihli, Diana Ballhausen, Joanna Bidiuk, Andrea Bordugo, Monica Boyer, Drago Bratkovic, Michaela Brunner‐Krainz, Alberto Burlina, Anupam Chakrapani, Willemijn E. Corpeleijn, Alison Cozens, Charlotte Dawson, Helena Dhamko, Maja Djordjevic Milosevic, Hernán Eiroa, Yael Finezilber, Carolina Fischinger Moura de Souza, Maria Concepción García‐Jiménez, Serena Gasperini, Dorothea Haas, Johannes Häberle, Rebecca Halligan, Law Hiu Fung, Alexandra Hörbe‐Blindt, Laura Horka, Martina Huemer, Sema Kalkan Uçar, Bozica Kecman, Sebile Kılavuz, Gergely Kriván, Martin Lindner, Natalia Lüsebrink, Konstantinos Makrilakis, Anne Mei Kwun Kwok, Esther M. Maier, Arianna Maiorana, Shawn E. McCandless, John James Mitchell, Hiroshi Mizumoto, Helen Mundy, Carlos Ochôa, Kathryn Pierce, Pilar Quijada Fraile, Debra S. Regier, Alessandro Rossi, René Santer, Hester C. Schuman, Piotr Sobieraj, Johannes Spenger, Ronen Spiegel, Karolina M. Stępień, Galit Tal, Mojca Žerjav Tanšek, Ana Drole Torkar, Michel Tchan, Santhosh Thyagu, Samantha A. Schrier Vergano, Erika Vucko, Natalie Weinhold, Petra Zsidegh, Saskia B. Wortmann

Хэвлэсэн 2022

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Artigo

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5

Enhanced interpretation of newborn screening results without analyte cutoff values -н Gregg Marquardt, Robert J. Currier, David McHugh, Dimitar Gavrilov, Mark J Magera, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily H. Smith, Silvia Tortorelli, Coleman Turgeon, Fred Lorey, Bridget Wilcken, Veronica Wiley, Lawrence Greed, Barry Lewis, François Boemer, Roland Schoos, Sandrine Marie, Marie‐Françoise Vincent, Yuri Cleverthon Sica, Mouseline Torquado Domingos, Khalid Al‐Thihli, Graham Sinclair, Osama Y. Al-Dirbashi, Pranesh Chakraborty, Mark Dymerski, Cory Porter, Adrienne Manning, Margretta R. Seashore, Jonessy Quesada, Alejandra Reuben, Petr Chrastina, Petr Horník, Iman Mandour, Sahar Sharaf, Olaf A. Bodamer, Bonifacio Dy, Jasmin Torres, Roberto Zori, David Cheillan, Christine Vianey‐Saban, David Ludvigson, Adrya Stembridge, Jim Bonham, Melanie Downing, Yannis Dotsikas, Yannis L. Loukas, Vagelis Papakonstantinou, Georgios S.A. Zacharioudakis, Ákos Baráth, Eszter Karg, Leifur Franzson, Jón J. Jónsson, Nancy N. Breen, Barbara G. Lesko, Stanton L. Berberich, Kimberley Turner, Margherita Ruoppolo, Emanuela Scolamiero, I. Antonozzi, Claudia Carducci, Ubaldo Caruso, Michela Cassanello, Giancarlo la Marca, Elisabetta Pasquini, Iole Maria Di Gangi, Giuseppe Giordano, Marta Camilot, Francesca Teofoli, Shawn Manos, Colleen K. Peterson, Stephanie K. Mayfield Gibson, Darrin W. Sevier, Soo‐Youn Lee, Hyung‐Doo Park, Issam Khneisser, Phaidra Browning, Fizza Gulamali-Majid, Michael S. Watson, Roger B. Eaton, Inderneel Sahai, Consuelo Ruiz, Rosário Torres, Mary Seeterlin, Eleanor Stanley, Amy Hietala, Mark McCann, Carlene Campbell, Patrick V. Hopkins, Monique G. de Sain-van der Velden, Bert Elvers, Mark A. Morrissey, Sherlykutty Sunny, Detlef Knoll, Dianne Webster, Dianne M. Frazier, Julie McClure, David E. Sesser

Хэвлэсэн 2012

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Artigo

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes -н Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair N. Al‐Hassnan, Maha Alotaibi, Husam Kayyali, Mohammed Al‐Owain, Ayaz Shah, Zuhair Rahbeeni, Mohammad A. Al–Muhaizea, Hamad Alzaidan, Edward Cupler, Saeed Bohlega, Eissa Faqeih, Maha Faden, Banan Al‐Younes, Dyala Jaroudi, Ewa Goljan, Hadeel Elbardisy, Asma Akilan, Renad Albar, Hesham Aldhalaan, Shamshad Gulab, Aziza Chedrawi, Bandar K. Al Saud, Wesam Kurdi, Nawal Makhseed, Tahani Alqasim, Heba Y. El Khashab, Hamoud Al‐Mousa, Amal Alhashem, Imaduddin Kanaan, Talal Algoufi, Khalid A. Alsaleem, Talal A. Basha, Fathiya Al-Murshedi, Sameena Khan, Adila Al‐Kindy, Maha Alnemer, Sami Al-Hajjar, Suad Alyamani, Hasan Al‐Dhekri, Ali Almehaidib, Rand Arnaout, Omar Dabbagh, Mohammad Shagrani, Dieter Broering, Maha Tulbah, Amal AlQassmi, Maisoon Almugbel, Mohammed Alquaiz, Abdulaziz Alsaman, Khalid Al‐Thihli, Raashda A. Sulaiman, Wajeeh Aldekhail, Abeer Al‐Saegh, Fahad A. Bashiri, Alya Qari, Suzan Alhomadi, Hisham Alkuraya, Mohammed Al‐Sebayel, Muddathir H. Hamad, László Szönyi, Faisal Abaalkhail, Sulaiman M. Al‐Mayouf, Hamad Al‐Mojalli, Khalid Alqadi, Hussien Elsiesy, Taghreed Shuaib, Mohammed Zain Seidahmed, Ibraheem Abosoudah, Hana Akleh, Abdulaziz Al‐Ghonaium, Turki M. Al-Kharfy, Fuad Al Mutairi, Wafa Eyaid, Abdullah Alshanbary, Farrukh Sheikh, Fahad Alsohaibani, Abdullah Alsonbul, Saeed Al Tala, Soher Balkhy, Randa Bassiouni, Ahmed Alenizi, Maged H. Hussein, Saeed Hassan, Mohamed M.I. Khalil, Brahim Tabarki, Saad AlShahwan, Oshi Amira, Yasser Sabr, Saad Alsaadoun, Mustafa A. Salih, Sarar Mohamed, Habiba Sultana, Abdullah Tamim, Moayad El-Haj, Saif Alshahrani, Dalal Bubshait, Majid Alfadhel

Хэвлэсэн 2017

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Artigo

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