檢索結果 - Neerja Gupta

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  1. 1
    Live births in women with recurrent hydatidiform mole and two NLRP7 mutations

    Live births in women with recurrent hydatidiform mole and two NLRP7 mutations 由 Elie Akoury, Neerja Gupta, Rashmi Bagga, Stephen Brown, Christine Déry, Madhulika Kabra, Radhika Srinivasan, Rima Slim

    出版 2015
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  2. 2
    Effect of vitamin D supplementation on insulin kinetics and cardiovascular risk factors in polycystic ovarian syndrome: a pilot study

    Effect of vitamin D supplementation on insulin kinetics and cardiovascular risk factors in polycystic ovarian syndrome: a pilot study 由 Gunjan Garg, Garima Kachhawa, Rekha Ramot, Rajesh Khadgawat, Nikhil Tandon, V. Sreenivas, Alka Kriplani, Neerja Gupta

    出版 2015
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  3. 3
    eP208: GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity

    eP208: GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity 由 Anna K. Paschall, Alisha Mavis, Aruna Rikhi, Vikrant Sood, Gilda Porta, Sheela Nampoothiri, Neerja Gupta, José E. Abdenur, Andrew J. Muir, Priya S. Kishnani

    出版 2022
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  4. 4
    Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

    Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 由 Ramesh Reddy, Elie Akoury, Ngoc Minh Nguyen, Omar Abdul‐Rahman, Christine Déry, Neerja Gupta, William P. Daley, Asangla Ao, Hanène Landolsi, Rosemary A. Fisher, Isabelle Touitou, Rima Slim

    出版 2012
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  5. 5
    Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease

    Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease 由 Hadhami Ben Turkia, Derlis Gonzalez, Norman W. Barton, Ari Zimran, Madhulika Kabra, Elena Lukina, Pilar Giraldo, Isaac Kisinovsky, Ashish Bavdekar, Marie‐Françoise Ben Dridi, Neerja Gupta, Priya S. Kishnani, EK Sureshkumar, Nan Wang, Eric Crombez, Kiran Bhirangi, Atul Mehta

    出版 2012
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    Artigo
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  6. 6
    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians 由 Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta, Gandham SriLakshmi Bhavani, Samarth Kulshrestha, Aneek Das Bhowmik, Amita Moirangthem, Sunita Bijarnia‐Mahay, Madhulika Kabra, Ratna Dua Puri, Kausik Mandal, Ishwar C. Verma, Stephanie Bielas, Shubha R. Phadke, Ashwin Dalal, Katta M. Girisha

    出版 2021
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  7. 7
    The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

    The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective 由 Mohamed A. Elmonem, Amaya Bélanger-Quintana, Andrea Bordugo, Ritma Boruah, Elisenda Cortès‐Saladelafont, Mounika Endrakanti, Pilar Giraldo, Sarah C. Grünert, Neerja Gupta, Madhulika Kabra, Ina Knerr, Johannes Krämer, Alice Kuster, Elena Levtchenko, Lock Hock Ngu, M. Mar Rovira‐Remisa, Jörn Oliver Sass, Jolanta Sykut‐Cegielska, Albina Tummolo, Lambertus P. van den Heuvel

    出版 2020
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  8. 8
    Mutations in CSPP1 Lead to Classical Joubert Syndrome

    Mutations in CSPP1 Lead to Classical Joubert Syndrome 由 Naiara Akizu, Jennifer L. Silhavy, Rasim Özgür Rosti, Eric Scott, Ali G. Fenstermaker, Jana Schroth, Maha S. Zaki, Henry Sánchez, Neerja Gupta, Madhulika Kabra, Majdi Kara, Tawfeg Ben‐Omran, Başak Rosti, Alicia Guemez‐Gamboa, Emily Spencer, Roger Pan, Na Cai, Mostafa Abdellateef, Stacey Gabriel, Jan Halbritter, Friedhelm Hildebrandt, Hans van Bokhoven, Murat Günel, Joseph G. Gleeson

    出版 2013
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  9. 9
    Turner syndrome in diverse populations

    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 2019
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  10. 10
    Cornelia de Lange syndrome in diverse populations

    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 2019
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  11. 11
    Williams–Beuren syndrome in diverse populations

    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 2018
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    Revisão
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  12. 12
    Cover Image, Volume 176A, Number 5, May 2018

    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 2018
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    Paratexto
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