Cystinosis: the evolution of a treatable disease

por Nesterova, Galina, Gahl, William A.
Publicado 2012

Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments

por Klein, Christoph, Gahl, William A
Publicado 2017

Lysosomal storage diseases

por Ferreira, Carlos R., Gahl, William A.
Publicado 2017

Disorders of metal metabolism

por Ferreira, Carlos R., Gahl, William A.
Publicado 2017

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians

por Gahl, William A., Boerkoel, Cornelius F., Boehm, Manfred
Publicado 2012

The curse of idiopathic

por O’Brien, Kevin J., Gahl, William A., Gochuico, Bernadette R.
Publicado 2017

First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7

por Soheilipour, Fahimeh, Fazilaty, Hassan, Jesmi, Fatemeh, Gahl, William A., Behnam, Babak
Publicado 2016

Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group

por Gahl, William A., Wong-Rieger, Durhane, Hivert, Virginie, Yang, Rachel, Zanello, Galliano, Groft, Stephen
Publicado 2021

Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome

por Morrone, Kerry, Wang, Yanhua, Huizing, Marjan, Sutton, Elie, White, James G., Gahl, William A., Moody, Karen
Publicado 2010

The secretory small GTPase Rab27B as a marker for breast cancer progression

por Hendrix, An, Braems, Geert, Bracke, Marc, Seabra, Miguel C., Gahl, William A., De Wever, Olivier, Westbroek, Wendy
Publicado 2010

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin

por Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi, Mommaas, Mieke, Boissy, Raymond E, Gahl, William A, Huizing, Marjan
Publicado 2005

Cysteamine Suppresses Invasion, Metastasis and Prolongs Survival by Inhibiting Matrix Metalloproteinases in a Mouse Model of Human Pancreatic Cancer

por Fujisawa, Toshio, Rubin, Benjamin, Suzuki, Akiko, Patel, Prabhudas S., Gahl, William A., Joshi, Bharat H., Puri, Raj K.
Publicado 2012

Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report

por Shakiba, Marjan, Mahjoub, Fatemeh, Fazilaty, Hassan, Rezagholizadeh, Fereshteh, Shakiba, Arghavan, Ziadlou, Maryam, Gahl, William A., Behnam, Babak
Publicado 2016

The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program’s Experience Developing Custom Software to Support Research for Complex-Disease Families

por Guzman, Jessica, Lee, Elizabeth, Draper, David, Valivullah, Zaheer, Yu, Guoyun, Sincan, Murat, Gahl, William A., Adams, David R.
Publicado 2015

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report

por Stephen, Joshi, Nampoothiri, Sheela, Vinayan, K. P., Yesodharan, Dhanya, Remesh, Preetha, Gahl, William A., Malicdan, May Christine V.
Publicado 2018

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria

por Lam, Christina, Gallo, Linda K., Dineen, Richard, Ciccone, Carla, Dorward, Heidi, Hoganson, George E., Wolfe, Lynne, Gahl, William A., Huizing, Marjan
Publicado 2014

PTPRF is disrupted in a patient with syndromic amastia

por Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Praphanphoj, Verayuth, Mahatumarat, Charan, Rojvachiranonda, Nond, Snabboon, Thiti, Markello, Thomas C, Gahl, William A, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado 2011

Explorations to improve the completeness of exome sequencing

por Du, Chen, Pusey, Barbara N., Adams, Christopher J., Lau, C. Christopher, Bone, William P., Gahl, William A., Markello, Thomas C., Adams, David R.
Publicado 2016

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

por Vilboux, Thierry, Ciccone, Carla, Blancato, Jan K., Cox, Gerald F., Deshpande, Charu, Introne, Wendy J., Gahl, William A., Smith, Ann C. M., Huizing, Marjan
Publicado 2011

The Immunome in Two Inherited Forms of Pulmonary Fibrosis

por El-Chemaly, Souheil, Cheung, Foo, Kotliarov, Yuri, O’Brien, Kevin J., Gahl, William A., Chen, Jinguo, Perl, Shira Y., Biancotto, Angélique, Gochuico, Bernadette R.
Publicado 2018