检索结果 - Meow‐Keong Thong
- Showing 1 - 16 results of 16
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Genetic Polymorphisms in LDLR, APOB, PCSK9 and Other Lipid Related Genes Associated with Familial Hypercholesterolemia in Malaysia 由 Say-Hean Lye, Jagdish Kaur Chahil, Pramod Bagali, Livy Alex, Jamunarani S. Vadivelu, Wan Azman Wan Ahmad, Siew-Pheng Chan, Meow‐Keong Thong, Shamsul Mohd Zain, Rosmawati Mohamed
出版 2013Artigo -
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Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer 由 Eswary Thirthagiri, SY Lee, Peter Choon Eng Kang, DS Lee, GT Toh, Suhaida A. Selamat, S-Y Yoon, Nur Aishah Mohd Taib, Meow‐Keong Thong, CH Yip, Soo‐Hwang Teo
出版 2008Artigo -
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Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-o... 由 Daphne SC Lee, Sook‐Yee Yoon, Lai‐Meng Looi, Peter Choon Eng Kang, In Nee Kang, Kavitta Sivanandan, Hany Ariffin, Meow‐Keong Thong, Kin Fah Chin, Nur Aishah Mohd Taib, Cheng Har Yip, Soo‐Hwang Teo
出版 2012Artigo -
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Ten novel<i>FBN2</i>mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype 由 Prateek Gupta, Elizabeth A. Putnam, Sonya G. Carmical, Ilkka Kaitila, Beat Steinmann, Anne H. Child, Cesare Danesino, Kay Metcalfe, Susan A. Berry, Emily Chen, Catherine Vincent Delorme, Meow‐Keong Thong, Lesley C. Adès, Dianna M. Milewicz
出版 2001Artigo -
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International perspectives on the implementation of reproductive carrier screening 由 Martin B. Delatycki, Fowzan S. Alkuraya, Alison D. Archibald, Carlo Castellani, Martina C. Cornel, Wayne W. Grody, Lidewij Henneman, Adonis S. Ioannides, Edwin P. Kirk, Nigel G. Laing, Anneke Lucassen, John Massie, Juliëtte Schuurmans, Meow‐Keong Thong, Irene M. van Langen, Joël Zlotogora
出版 2019Revisão -
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The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review 由 Judit Kumuthini, Brittany Zick, Angeliki Balasopoulou, Constantina Chalikiopoulou, Collet Dandara, Ghada El‐Kamah, Laura Findley, Θεοδώρα Κάτσιλα, Rongling Li, Ebner Bon G. Maceda, Henrietta Ifechukwude Monye, Gabriel Rada, Meow‐Keong Thong, Thilina Wanigasekera, Hannah Kennel, Veeramani Marimuthu, Marc S. Williams, Fahd Al‐Mulla, Marc Abramowicz
出版 2022Revisão -
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A case-control study of breast cancer risk factors in 7,663 women in Malaysia 由 Min Tan, Weang-Kee Ho, Sook-Yee Yoon, Shivaani Mariapun, Siti Norhidayu Hasan, Daphne Shin-Chi Lee, Tiara Hassan, Sheau-Yee Lee, Sze-Yee Phuah, Kavitta Sivanandan, Patsy Pei-Sze Ng, Nadia Rajaram, Maheswari Jaganathan, Suniza Jamaris, Tania Islam, Kartini Rahmat, Farhana Fadzli, Anushya Vijayananthan, Pathmanathan Rajadurai, Mee‐Hoong See, Meow‐Keong Thong, Nur Aishah Mohd Taib, Cheng Har Yip, Soo‐Hwang Teo
出版 2018Artigo -
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22q11.2 deletion syndrome in diverse populations 由 Paul Kruszka, Yonit A. Addissie, Daniel E. McGinn, Antonio R. Porras, Elijah Biggs, Matthew Share, T. Blaine Crowley, Brian Hon‐Yin Chung, Gary Mok, Christopher Chun Yu Mak, Premala Muthukumarasamy, Meow‐Keong Thong, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. S. Paththinige, L. B. L. Prabodha, Rupesh Mishra, Vorasuk Shotelersuk, Ekanem N. Ekure, Ogochukwu Sokunbi, Nnenna Kalu, Carlos R. Ferreira, J. Chad Duncan, Siddaramappa J. Patil, Kelly L. Jones, Julie Kaplan, Omar Abdul‐Rahman, Annette Uwineza, Léon Mutesa, Angélica Moresco, María Gabriela Obregón, Antônio Richieri‐Costa, Vera Lúcia Gil‐da‐Silva‐Lopes, Adebowale Adeyemo, Marshall Summar, Elaine H. Zackai, Donna M. McDonald‐McGinn, Marius George Linguraru, Maximilian Muenke
出版 2017Artigo -
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Turner syndrome in diverse populations 由 Paul Kruszka, Yonit A. Addissie, Cedrik Tekendo‐Ngongang, Kelly L. Jones, Sarah Savage, Neerja Gupta, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. S. Paththinige, Teresa Aravena, Sheela Nampoothiri, Dhanya Yesodharan, Katta M. Girisha, Siddaramappa J. Patil, Saumya Shekhar Jamuar, Jasmine Chew‐Yin Goh, Agustini Utari, Nydia Rena Benita Sihombing, Rupesh Mishra, Neer Shoba Chitrakar, Brenda C. Iriele, Ezana Lulseged, André Mégarbané, Annette Uwineza, Elizabeth Eberechi Oyenusi, Oluwarotimi Olopade, O.A Fasanmade, Milagros Dueñas, Meow‐Keong Thong, Joanna Y.L. Tung, Gary Mok, Nicole Fleischer, Godfrey Mutashambara Rwegerera, María Beatriz de Herreros, Johnathan Watts, Karen Fieggen, Victoria Huckstadt, Angélica Moresco, María Gabriela Obregón, Dalia Farouk, Neveen A. Ashaat, Engy A. Ashaat, Brian Hon‐Yin Chung, Ëben Badoe, Sultana MH Faradz, Mona O. El Ruby, Vorasuk Shotelersuk, Ambroise Wonkam, Ekanem N. Ekure, Shubha R. Phadke, Antônio Richieri‐Costa, Maximilian Muenke
出版 2019Artigo -
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Noonan syndrome in diverse populations 由 Paul Kruszka, Antonio R. Porras, Yonit A. Addissie, Angélica Moresco, S. Arvizu Medrano, Gary Mok, Gordon K. C. Leung, Cedrik Tekendo‐Ngongang, Annette Uwineza, Meow‐Keong Thong, Premala Muthukumarasamy, Engela Honey, Ekanem N. Ekure, Ogochukwu Sokunbi, Nnenna Kalu, Kelly L. Jones, Julie Kaplan, Omar Abdul‐Rahman, Lisa M. Vincent, Amber Love, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Anju Shukla, Katta M. Girisha, Siddaramappa J. Patil, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. S. Paththinige, Rupesh Mishra, Eva Klein‐Zighelboim, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca-Barriga, Steven A. Skinner, Eloise J. Prijoles, Ëben Badoe, Ashleigh D. Gill, Vorasuk Shotelersuk, Patroula Smpokou, Monisha S. Kisling, Carlos R. Ferreira, Léon Mutesa, André Mégarbané, Antonie D. Kline, Amy Kimball, Emmy Okello, Peter Lwabi, Twalib Aliku, Emmanuel Tenywa, Nonglak Boonchooduang, Pranoot Tanpaiboon, Antônio Richieri‐Costa, Ambroise Wonkam, Brian Hon‐Yin Chung, Roger E. Stevenson, Marshall Summar, Kausik Mandal, Shubha R. Phadke, María Gabriela Obregón, Marius George Linguraru, Maximilian Muenke
出版 2017Artigo -
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Cornelia de Lange syndrome in diverse populations 由 Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Ëben Badoe, Meow‐Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S. Nayak, Vorasuk Shotelersuk, André Mégarbané, Shubha R. Phadke, Nirmala D. Sirisena, Vajira H. W. Dissanayake, Carlos R. Ferreira, Monisha S. Kisling, Pranoot Tanpaiboon, Annette Uwineza, Léon Mutesa, Cedrik Tekendo‐Ngongang, Ambroise Wonkam, Karen Fieggen, Letícia Cassimiro Batista, Danilo Moretti‐Ferreira, Roger E. Stevenson, Eloise J. Prijoles, David B. Everman, Kate B. Clarkson, Jessica Worthington, Virginia Kimonis, Fuki M. Hisama, Carol A. Crowe, Paul Wong, Kisha Johnson, Robin D. Clark, Lynne M. Bird, Diane Masser‐Frye, Timothy J. McDonald, Patrick J. Willems, Elizabeth Roeder, Sulgana Saitta, Kwame Anyane‐Yeoba, Laurie Demmer, Naoki Hamajima, Zornitza Stark, Greta Gillies, Louanne Hudgins, Usha Dave, Stavit A. Shalev, Victoria Mok Siu, Neerja Gupta, Madhulika Kabra, Angus Ades, Holly Dubbs, Sarah E. Raible, Maninder Kaur, Emanuela Salzano, Laird S. Jackson, Matthew A. Deardorff, Antonie D. Kline, Marshall Summar, Maximilian Muenke, Marius George Linguraru, Ian D. Krantz
出版 2019Artigo -
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Williams–Beuren syndrome in diverse populations 由 Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Yonit A. Addissie, Gary Mok, Cedrik Tekendo‐Ngongang, Karen Fieggen, Eloise J. Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho‐Ming Luk, Ivan F. M. Lo, Meow‐Keong Thong, Premala Muthukumarasamy, Kelly L. Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. S. Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, María Beatriz de Herreros, Ni‐Chung Lee, Saumya Shekhar Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen‐Min, Neerja Gupta, Stephanie Lotz‐Esquivel, Ramsés Badilla‐Porras, Dalia Farouk, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Leah Dowsett, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregón, Brian Hon‐Yin Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca-Barriga, André Mégarbané, Beth A. Kozel, Mieke M. van Haelst, Roger E. Stevenson, Marshall Summar, Adebowale Adeyemo, Colleen A. Morris, Danilo Moretti‐Ferreira, Marius George Linguraru, Maximilian Muenke
出版 2018Revisão -
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Cover Image, Volume 176A, Number 5, May 2018 由 Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Yonit A. Addissie, Gary Tsz Kin Mok, Cedrik Tekendo‐Ngongang, Karen Fieggen, Eloise J. Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho‐Ming Luk, Ivan F. M. Lo, Meow‐Keong Thong, Premala Muthukumarasamy, Kelly L. Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. S. Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, María Beatriz de Herreros, Ni‐Chung Lee, Saumya Shekhar Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen‐Min, Neerja Gupta, Stephanie Lotz‐Esquivel, Ramsés Badilla‐Porras, Dalia Farouk, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Leah Dowsett, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregón, Brian Hon‐Yin Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca-Barriga, André Mégarbané, Beth A. Kozel, Mieke M. van Haelst, Roger E. Stevenson, Marshall Summar, Adebowale Adeyemo, Colleen A. Morris, Danilo Moretti‐Ferreira, Marius George Linguraru, Maximilian Muenke
出版 2018Paratexto -
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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 由 Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro, Ibrahim M. Abdelrazek, Jean Tori Pantel, Merle ten Hagen, Meow‐Keong Thong, Rifhan Azwani Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Mirosław Kwaśniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Sze-Man Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem N. Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa E. A. Gaboon, Moisés Ó. Fiesco-Roa, Alessandro Spinelli, Nina‐Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B. Haack, Rana Bitar, Andreas Tzschach, Agustí Rodríguez‐Palmero, Theresa Brunet, Sabine Rudnik–Schöneborn, Silvina Contreras‐Capetillo, Ava Oberlack, Carole Samango‐Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlósi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio Federico Martínez‐Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed, Amaia Lasa‐Aranzasti, John A. Sayer, Nadja Ehmke, Magdalena Danyel, Henrike L. Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, R. Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun
出版 2024Pré-impressão
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