Multisystem Radiologic Manifestations of Erdheim-Chester Disease

Por Lodhi, Umairullah, Sarmast, Uzair, Khan, Saadullah, Yaddanapudi, Kavitha
Publicado no Case Rep Radiol (2016)

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux

Por Khan, Saadullah, Ali, Raja Hussain, Abbasi, Sanaullah, Nawaz, Muhammad, Muhammad, Noor, Ahmad, Wasim
Publicado em 2012

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

Por Jun, Kyung Ran, Ullmann, Reinhard, Khan, Saadullah, Layman, Lawrence C, Kim, Hyung-Goo
Publicado em 2014

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families

Por Lee, Kwanghyuk, Khan, Saadullah, Ansar, Muhammad, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M.
Publicado em 2011

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

Por Khan, Anwar Kamal, Muhammad, Noor, Aziz, Abdul, Khan, Sher Alam, Shah, Khadim, Nasir, Abdul, Khan, Muzammil Ahmad, Khan, Saadullah
Publicado no BMC Med Genet (2017)

Novel TMPRSS3 variants in Pakistani families with autosomal recessive nonsyndromic hearing impairment

Por Lee, Kwanghyuk, Khan, Saadullah, Islam, Adeel, Ansar, Muhammad, Andrade, Paula B., Kim, Stephanie, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M.
Publicado em 2011

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

Por Rehman, Atteeq U., Gul, Khitab, Morell, Robert J., Lee, Kwanghyuk, Ahmed, Zubair M., Riazuddin, Saima, Ali, Rana A., Shahzad, Mohsin, Jaleel, Ateeq-ul, Andrade, Paula B., Khan, Shaheen N., Khan, Saadullah, Brewer, Carmen C., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Friedman, Thomas B.
Publicado em 2011

Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

Por Santos-Cortez, Regie Lyn P., Lee, Kwanghyuk, Azeem, Zahid, Antonellis, Patrick J., Pollock, Lana M., Khan, Saadullah, Irfanullah, Andrade-Elizondo, Paula B., Chiu, Ilene, Adams, Mark D., Basit, Sulman, Smith, Joshua D., Nickerson, Deborah A., McDermott, Brian M., Ahmad, Wasim, Leal, Suzanne M.
Publicado em 2013