Fabry's disease von Zarate, Yuri A, MD, Hopkin, Robert J, Dr

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The genetic landscape of familial congenital hydrocephalus von Shaheen, Ranad, Sebai, Mohammed Adeeb, Patel, Nisha, Ewida, Nour, Kurdi, Wesam, Altweijri, Ikhlass, Sogaty, Sameera, Almardawi, Elham, Seidahmed, Mohammed Zain, Alnemri, Abdulrahman, Madirevula, Sateesh, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Sallout, Bahauddin, AlBaqawi, Badi, AlAali, Wajeih, Ajaji, Nouf, Lesmana, Harry, Hopkin, Robert J., Dupuis, Lucie, Mendoza‐Londono, Roberto, Al Rukban, Hadeel, Yoon, Grace, Faqeih, Eissa, Alkuraya, Fowzan S.

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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome von Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B., Curry, Cynthia J., Jones, Marilyn C., Wilkie, Andrew O.M.

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Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1 von Prada, Carlos E., MD, Rangwala, Fatima A., MD, Martin, Lisa J., PhD, Lovell, Anne M., MSN, CNP, Saal, Howard M., MD, Schorry, Elizabeth K., MD, Hopkin, Robert J., MD

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Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease von Hamed, Alaa, DasMahapatra, Pronabesh, Lyn, Nicole, Gwaltney, Chad, Hopkin, Robert J

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Immune and genetic aspects of asthma, allergy and parasitic worm infections: evolutionary links von HOPKIN, J

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A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem von Klein, T L, Bender, J, Bolton, S, Collin-Histed, T, Daher, A, De Baere, L, Dong, D, Hopkin, J, Johnson, J, Lai, T, Pavlou, M, Schaller, T, Žnidar, I

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Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry von Hopkin, Robert J, Bissler, John, Banikazemi, Maryam, Clarke, Lorne, Eng, Christine M, Germain, Dominique P, Lemay, Roberta, Tylki-Szymanska, Anna, Wilcox, William R

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Congenital Hypothyroidism: Screening and Management von Rose, Susan R, Wassner, Ari J, Wintergerst, Kupper A, Yayah-Jones, Nana-Hawa, Hopkin, Robert J, Chuang, Janet, Smith, Jessica R, Abell, Katherine, LaFranchi, Stephen H

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Megakaryocyte NLRP3 hyperactivation induces mild anemia and potentiates inflammatory response in mice von Bourne, Joshua H, Campos, Joana, Hopkin, Sophie J, Whitworth, Katharine, Palis, James, Senis, Yotis A, Rayes, Julie, Iqbal, Asif J, Brill, Alexander

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The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1 von Prada, Carlos E., MD, Hufnagel, Robert B., MD, PhD, Hummel, Trent R., MD, Lovell, Anne M., MSN, CNP, Hopkin, Robert J., MD, Saal, Howard M., MD, Schorry, Elizabeth K., MD

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The Inverse Association Between Tuberculin Responses and Atopic Disorder von Shirakawa, Taro, Enomoto, Tadao, Shimazu, Shin-ichiro, Hopkin, Julian M.

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Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome von Lindsley, Andrew W., MD, PhD, Saal, Howard M., MD, Burrow, Thomas A., MD, Hopkin, Robert J., MD, Shchelochkov, Oleg, MD, Khandelwal, Pooja, MD, Xie, Changchun, PhD, Bleesing, Jack, MD, PhD, Filipovich, Lisa, MD, Risma, Kimberly, MD, PhD, Assa'ad, Amal H., MD, Roehrs, Phillip A., MD, Bernstein, Jonathan A., MD

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Early childhood infection and atopic disorder von Farooqi, I Sadaf, Hopkin, Julian M

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The management and treatment of children with Fabry disease: A United States-based perspective von Hopkin, Robert J., Jefferies, John L., Laney, Dawn A., Lawson, Victoria H., Mauer, Michael, Taylor, Matthew R., Wilcox, William R.

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Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13 von Russell, Bianca E., Whaley, Kaitlin G., Bove, Kevin E., Labilloy, Anatalia, Lombardo, Rachel C., Hopkin, Robert J., Leslie, Nancy D., Prada, Carlos, Assouline, Zahra, Barcia, Giulia, Bouchereau, Juliette, Chomton, Maryline, Debray, Dominique, Dorboz, Imen, Durand, Philippe, Gaignard, Pauline, Habes, Dalila, Jardel, Claude, Labarthe, François, Lévy, Jonathan, Lombès, Anne, Mehler‐Jacob, Claire, Melki, Judith, Menvielle, Laura, Munnich, Arnold, Mussini, Charlotte, Pichard, Samia, Rio, Marlène, Rötig, Agnès, Sissaoui, Samira, Slama, Abdelhamid, Miethke, Alexander G, Schiff, Manuel

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Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial von Wijburg, Frits A, Bénichou, Bernard, Bichet, Daniel G, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, An Haack, Kristina, Hopkin, Robert J, Mauer, Michael, Najafian, Behzad, Scott, C Ronald, Shankar, Suma P, Thurberg, Beth L, Tøndel, Camilla, Tylki-Szymańska, Anna, Ramaswami, Uma

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Complex genomic rearrangements of the Y chromosome in a premature infant von Balow, Stephanie A, Coyan, Alyxis G, Smith, Nicki, Russell, Bianca E, Monteil, Danielle, Hopkin, Robert J, Smolarek, Teresa A

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Acrofacial dysostosis, Cincinnati type: a mandibulofacial dysostosis syndrome with limb anomalies caused by POLR1A dysfunction von Weaver, K. Nicole, Noack Watt, Kristin E., Hufnagel, Robert B., Acedo, Joaquin Navajas, Linscott, Luke L., Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R., Trainor, Paul A., Wieczorek, Dagmar, Saal, Howard M.

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Triggering the Resolution of Immune Mediated Inflammatory Diseases: Can Targeting Leukocyte Migration Be the Answer? von Hopkin, Sophie J, Lewis, Jonathan W, Krautter, Franziska, Chimen, Myriam, McGettrick, Helen M

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