Results 61 to 70 of about 4,354 (166)

The Tip of the Iceberg: Cutaneous Manifestations of Paediatric Diseases with Neurological Involvement [PDF]

, 2015
Introdução: Algumas alterações cutâneas podem ser as primeiras manifestações clínicas de diversas entidades nosológicas com atingimento sistémico. O presente trabalho tem como objectivo rever a semiologia dermatológica relevante no contexto das doenças ...
Afonso, P, Brasileiro, A, Diamantino, F, Paiva Lopes, MJ   +3 more
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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
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LABRAD : Vol 34, Issue 2 - May 2009 [PDF]

, 2009
Acute Leukemia Immunophenotyping with Pakistani Perspective PAX5: Immunohistochemistry Marker for B cell Lymphoproliferative Disorders Understanding the Water Deprivation Test Gonadotropins Releasing Hormone (GnRH) Stimulation Test Haematology Quiz Red ...
Aga Khan University Hospital, Karachi
core   +1 more source

Successful use of emapalumab in refractory hemophagocytic lymphohistiocytosis in a child with Chédiak-Higashi syndrome: a case report. [PDF]

J Med Case Rep, 2023
AlAhmari A, Khogeer H.
europepmc   +1 more source

Frontiers in Pigment Cell and Melanoma Research

, 2018
We identify emerging frontiers in clinical and basic research of melanocyte biology and its associated biomedical disciplines. We describe challenges and opportunities in clinical and basic research of normal and diseased melanocytes that impact current ...
Birlea, Stanca, Bosenberg, Marcus W., Box, Neil F., Brash, Douglas, Cassidy, Pamela B., Chen, Suzie, D'Orazio, John August, Filipp, Fabian V., Fujita, Mayumi, Goh, Boon-Kee, Herlyn, Meenhard, Indra, Arup K., Larue, Lionel, Leachman, Sancy A., Liu-Smith, Feng, Manga, Prashiela, Montoliu, Lluis, Norris, David A., Poole, Caroline Le, Shellman, Yiqun, Smalley, Keiran S. M., Spritz, Richard A., Sturm, Richard A., Swetter, Susan M., Terzian, Tamara, Wakamatsu, Kazumasa, Weber, Jeffrey S.   +26 more
core   +1 more source

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome. [PDF]

Front Genet, 2023
Kuptanon C, Morimoto M, Nicoli ER, Stephen J, Yarnell DS, Dorward H, Owen W, Parikh S, Ozbek NY, Malbora B, Ciccone C, Gunay-Aygun M, Gahl WA, Introne WJ, Malicdan MCV.   +14 more
europepmc   +1 more source

گزارش اولين مورد سندرم فاميلی آلبينيسم چشمی ـ پوستی نوزادی در همراهی با سندرم [PDF]

, 2007
مقدمه: آلبينيسم شامل گروهی از شرايط بالينی می‌باشد که به صورت ارثی منتقل می‌گردند. در مبتلايان به بيماری، رنگدانه ملانين در چشم، پوست و مو، کم است يا وجود ندارد.
خالصی, نسرین, صالحی, فرود, کشاورز, کامبیز   +2 more
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Management of Severe Neutropenia in a Child With Chediak-Higashi Syndrome Using Granulocyte-Colony Stimulating Factor (G-CSF): A Case Report. [PDF]

Cureus, 2023
Almesfer A, Alradhi S, Alamr F, AlSaiary M.   +3 more
europepmc   +1 more source

Oral Management of a Haematopoietic Stem Cell Transplant Recipient with Chédiak-Higashi Syndrome. [PDF]

Case Rep Dent, 2021
Shimizu K, Hayashi M, Ito N, Hamada K, Koizumi G, Kurohara K, Arai N.   +6 more
europepmc   +1 more source

Images from the Haematologica atlas of hematologic cytology: Chediak-Higashi syndrome. [PDF]

Haematologica, 2021
De Azambuja AP, Balduini CL.
europepmc   +1 more source