Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Prince Makay"'
Autor:
Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
BackgroundPatients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized
Externí odkaz:
https://doaj.org/article/da71af76c6954864ad49d713a5a8c259
Autor:
Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
IntroductionRare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the lo
Externí odkaz:
https://doaj.org/article/2227df40187d4d7eabf002601c80d926
Autor:
Gerrye Mubungu, Mathieu Roelants, Aimé Lumaka, Prince Makay, Dahlie Tshika, Toni Lubala, Prosper Tshilobo Lukusa, Koenraad Devriendt
Publikováno v:
American Journal of Medical Genetics Part A. 188:3063-3070
The evaluation of dysmorphism is often subjective because many continuous traits are not easily measured or lack normal values. Because many common morphologic profiles vary between populations, population-specific reference ranges of relevant traits
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40711b6c079f666a57696c0e287c67d0
https://doi.org/10.1002/ajmg.a.62958
https://doi.org/10.1002/ajmg.a.62958
Autor:
Prince Makay, Gerrye Mubungu, Aimée Mupuala, Krista Bluske, Carolyn Brown, Sarah A. Schmidt, Mamy Ngole, Patrick Fuanani, Denise L. Perry, Prosper Lukusa, Koenraad Devriendt, Ryan J. Taft, Aimé Lumaka
Publikováno v:
American Journal of Medical Genetics Part A. 188:2825-2831
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::66ffddd7ac75535f2ff12de87ef95ac9
https://doi.org/10.1002/ajmg.a.62855
https://doi.org/10.1002/ajmg.a.62855
Autor:
Bouchra Boujemla, James R. Lupski, Jennifer E. Posey, Koenraad Devriendt, Vincent Bours, Gerrye Mubungu, Aimé Lumaka, Prince Makay, Prosper Lukusa, Stephane Yanda
Publikováno v:
Am J Med Genet A
Xia-Gibbs syndrome (XGS) is a very rare genetic condition. The clinical spectrum is very broad and variable. The phenotype and evolution in a Congolese boy with XGS have been reported. At 6 years he had speech delay, drooling, marked hyperactivity, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca9e7b438bd545d3048b9c6363afa86
https://doi.org/10.1002/ajmg.a.62049
https://doi.org/10.1002/ajmg.a.62049
Autor:
Bruno-Paul Tady, Dahlie Tshika, Mathieu Roelants, Gerrye Mubungu, Nono Mvuama, Aimé Lumaka, Prince Makay, Koenraad Devriendt, Prosper Lukusa Tshilobo, Thérèse Biselele
Publikováno v:
American Journal of Medical Genetics Part A. 185:453-460
In Central-Africa, neonatal infections, asphyxia and prematurity are main reasons for admission to the neonatal intensive care unit and major determinants of newborn survival. Also, the outcome of newborns with congenital anomalies is expected to be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6f6de5758652ac842abfb7ac0d9a0b0
https://doi.org/10.1002/ajmg.a.61987
https://doi.org/10.1002/ajmg.a.61987
Autor:
Guy Lukute, Cathy Songo, Prosper Lukusa, Gerrye Mubungu, Aimé Lumaka, Prince Makay, Koenraad Devriendt
Publikováno v:
American Journal of Medical Genetics Part A. 182:1572-1575
Sotos syndrome is a widely studied overgrowth syndrome. Clinical presentation includes excessive growth during childhood, macrocephaly, learning difficulties of various degrees, variable minor features, and distinctive facial gestalt. We provide in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::90ab11f0273b06b7ab4c87fd7b0fd859
https://doi.org/10.1002/ajmg.a.61617
https://doi.org/10.1002/ajmg.a.61617