Two cases of Prune Belly Syndrome from Kagera Region Tanzania

por Kessy, Jonas P., Philemon, Rune N., Hamel, Ben C.
Publicado 2020

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation

por Mende, Rose H., Drake, David P., Olomi, Raimos M., Hamel, Ben C. J.
Publicado 2012

Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

por Shao, Elichilia R., Kiyegi, Lucas F., Mwasamwaja, Amos O., Kilonzo, Kajiru, Hamel, Ben C. J.
Publicado 2017

Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa

por Dekker, Marieke C.J., Chengo, Rose, Kumburu, Happiness H., Kamsteeg, Erik-Jan, Hamel, Ben C.
Publicado 2020

Camurati–Engelmann disease: a case report from sub-Saharan Africa

por Mwasamwaja, Amos O, Mkwizu, Elifuraha W, Shao, Elichilia R, Kalambo, Clement F, Lyaruu, Isaack, Hamel, Ben C
Publicado 2018

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

por Mundhofir, Farmaditya E. P., Yntema, Helger G., van der Burgt, Ineke, Hamel, Ben C. J., Faradz, Sultana M. H., van Bon, Bregje W. M.
Publicado 2012

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

por Mundhofir, Farmaditya E. P., Nillesen, Willy M., Van Bon, Bregje W. M., Smeets, Dominique, Pfundt, Rolph, van de Ven-Schobers, Gaby, Ruiterkamp-Versteeg, Martina, Winarni, Tri I., Hamel, Ben C. J., Yntema, Helger G., Faradz, Sultana M. H.
Publicado 2013

The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family

por Hilhorst-Hofstee, Yvonne, Rijlaarsdam, Marry EB, Scholte, Arthur JHA, Swart-van den Berg, Marietta, Versteegh, Michel IM, van der Schoot-van Velzen, Iris, Schäbitz, Hans-Joachim, Bijlsma, Emilia K, Baars, Marieke J, Kerstjens-Frederikse, Wilhelmina S, Giltay, Jacques C, Hamel, Ben C, Breuning, Martijn H, Pals, Gerard
Publicado 2010