Resultados da busca - Raza, Jamal

Clinical, hormonal and chromosomal analysis of undervirilized male/46XY DSD – a 3years experience of national institute of child health por Atta, Irum, Lone, Saira, Khan, Yasir Naqi, Ibrahim, Mohsina, Raza, Jamal

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Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients por Khan, Aysha H, Aban, Muniba, Raza, Jamal, ul Haq, Naeem, Jabbar, Abdul, Moatter, Tariq

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Precocious puberty in children por Atta, Irum, laghari, Taj Muhammad, Khan, Yasir Naqi, Lone, Saira Waqar, Ibrahim, Mohsina, Raza, Jamal

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X-linked Adrenoleukodystrophy in a 20-Year-Old Male With an ABCD1 Gene Mutation: First Case From Pakistan por Ghori, Mariam, Molani, Rameen A, Ibrahim, Prof Mohsina N, Hanif, Misbah I, Jamal Raza, Jamal

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Typhoid and Paratyphoid Cost of Illness in Pakistan: Patient and Health Facility Costs From the Surveillance for Enteric Fever in Asia Project II por Mejia, Nelly, Qamar, Farah, Yousafzai, Mohammad T, Raza, Jamal, Garrett, Denise O, Date, Kashmira, Abimbola, Taiwo, Pallas, Sarah W

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Non-Classic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein With Very Late Presentation and Normal Male Genitalia por Baker, Bo Yang, Lin, Lin, Kim, Chan Jong, Raza, Jamal, Smith, Claire P., Miller, Walter L., Achermann, John C.

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Variable phenotypes associated with aromatase (CYP19) insufficiency in humans por Lin, Lin, Ercan, Oya, Raza, Jamal, Burren, Christine P., Creighton, Sarah M., Auchus, Richard J., Dattani, Mehul T., Achermann, John C.

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Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village… por Rowlands, Amanda, Deeb, Asma, Ladjouze, Asmahane, Hamza, Rasha T, Musa, Salwa A, Raza, Jamal, Jennane, Farida, Abu-Libdeh, Abdulsalam, Chanoine, Jean-Pierre

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Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46, XY diff... por Ayers, Katie, van den Bergen, Jocelyn, Robevska, Gorjana, Listyasari, Nurin, Raza, Jamal, Atta, Irum, Riedl, Stefan, Rothacker, Karen, Choong, Catherine, Faradz, Sultana M H, Sinclair, Andrew

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Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci por Beales, Philip L., Katsanis, Nicholas, Lewis, Richard A., Ansley, Stephen J., Elcioglu, Nursel, Raza, Jamal, Woods, Michael O., Green, Jane S., Parfrey, Patrick S., Davidson, William S., Lupski, James R.

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Perceptions of parents and healthcare professionals regarding minimal invasive tissue sampling to identify the cause of death in stillbirths and neonates: a qualitative study proto... por Feroz, Anam, Ibrahim, Mohsina Noor, Tikmani, Shiyam Sunder, Reza, Sayyeda, Abbasi, Zahid, Raza, Jamal, Yasmin, Haleema, Bano, Khadija, Zafar, Afia, McClure, Elizabeth M., Goldenberg, Robert L., Saleem, Sarah

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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis() por Pangrazio, Alessandra, Puddu, Alessandro, Oppo, Manuela, Valentini, Maria, Zammataro, Luca, Vellodi, Ashok, Gener, Blanca, Llano-Rivas, Isabel, Raza, Jamal, Atta, Irum, Vezzoni, Paolo, Superti-Furga, Andrea, Villa, Anna, Sobacchi, Cristina

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We All Have a Role to Play: Redressing Inequities for Children Living with CAH and Other Chronic Health Conditions of Childhood in Resource-Poor Settings por Armstrong, Kate, Benedict Yap, Alain, Chan-Cua, Sioksoan, Craig, Maria E., Cole, Catherine, Chi Dung, Vu, Hansen, Joseph, Ibrahim, Mohsina, Nadeem, Hassana, Pulungan, Aman, Raza, Jamal, Utari, Agustini, Ward, Paul

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Perceptions of parents and religious leaders regarding minimal invasive tissue sampling to identify the cause of death in stillbirths and neonates: results from a qualitative study por Feroz, Anam, Ibrahim, Mohsina Noor, McClure, Elizabeth M., Ali, Anum Shiraz, Tikmani, Shiyam Sunder, Reza, Sayyeda, Abbasi, Zahid, Raza, Jamal, Yasmin, Haleema, Bano, Khadija, Zafar, Afia, Siddiqi, Sameen, Goldenberg, Robert L., Saleem, Sarah

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Perceptions of health professionals regarding minimally invasive tissue sampling (MITS) to identify the cause of death in stillbirths and neonates: results from a qualitative study por Feroz, Anam, Ali, Anum Shiraz, Ibrahim, Mohsina Noor, McClure, Elizabeth M., Tikmani, Shiyam Sunder, Reza, Sayyeda, Abbasi, Zahid, Raza, Jamal, Yasmin, Haleema, Bano, Khadija, Zafar, Afia, Siddiqi, Sameen, Goldenberg, Robert L., Saleem, Sarah

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Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction por McCabe, Mark J., Gaston-Massuet, Carles, Tziaferi, Vaitsa, Gregory, Louise C., Alatzoglou, Kyriaki S., Signore, Massimo, Puelles, Eduardo, Gerrelli, Dianne, Farooqi, I. Sadaf, Raza, Jamal, Walker, Joanna, Kavanaugh, Scott I., Tsai, Pei-San, Pitteloud, Nelly, Martinez-Barbera, Juan-Pedro, Dattani, Mehul T.

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The project to understand and research preterm pregnancy outcomes and stillbirths in South Asia (PURPOSe): a protocol of a prospective, cohort study of causes of mortality among pr... por McClure, Elizabeth M., Saleem, Sarah, Goudar, Shivaprasad S., Dhaded, Sangappa, Guruprasad, G., Kumar, Yogesh, Tikmani, Shiyam Sunder, Kadir, Masood, Raza, Jamal, Yasmin, Haleema, Moore, Janet L., Kim, Jean, Bann, Carla, Parlberg, Lindsay, Aceituno, Anna, Carlo, Waldemar A., Silver, Robert M., Lamberti, Laura, Patterson, Janna, Goldenberg, Robert L.

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Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development por van den Bergen, Jocelyn A., Robevska, Gorjana, Eggers, Stefanie, Riedl, Stefan, Grover, Sonia R., Bergman, Philip B., Kimber, Chris, Jiwane, Ashish, Khan, Sophy, Krausz, Csilla, Raza, Jamal, Atta, Irum, Davis, Susan R., Ono, Makato, Harley, Vincent, Faradz, Sultana M. H., Sinclair, Andrew H., Ayers, Katie L.

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The causes of stillbirths in south Asia: results from a prospective study in India and Pakistan (PURPOSe) por McClure, Elizabeth M, Saleem, Sarah, Goudar, Shivaprasad S, Tikmani, Shiyam Sunder, Dhaded, Sangappa M, Hwang, Kay, Guruprasad, Gowdar, Shobha, Dhananjaya, Sarvamangala, B, Yogeshkumar, S, Somannavar, Manjunath S, Roujani, Sana, Reza, Sayyeda, Raza, Jamal, Yasmin, Haleema, Aceituno, Anna, Parlberg, Lindsay, Kim, Jean, Bann, Carla M, Silver, Robert M, Goldenberg, Robert L

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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort por Eggers, Stefanie, Sadedin, Simon, van den Bergen, Jocelyn A., Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid M., Tan, Tiong Yang, Cameron, Fergus, Werther, George, Hutson, John, O’Connell, Michele, Grover, Sonia R., Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew F., Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F., Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Crock, Patricia, Cowell, Chris, Leong, Gary M., Ono, Makato, Lafferty, Antony R., Huynh, Tony, Visser, Uma, Choong, Catherine S., McKenzie, Fiona, Pachter, Nicholas, Thompson, Elizabeth M., Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J., Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I., Krausz, Csilla, van Ravenswaaij-Arts, Conny M. A., Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Oshlack, Alicia, Ayers, Katie L., Sinclair, Andrew H.

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