A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter–Thompson type

Por Ullah, Asmat, Umair, Muhammad, Muhammad, Dost, Bilal, Muhammad, Lee, Kwanghyuk, Leal, Suzanne M, Ahmad, Wasim
Publicado no Ann Hum Genet (2018)

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

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families

Por Chishti, Muhammad S., Bhatti, Attya, Tamim, Sana, Lee, Kwanghyuk, McDonald, Merry-Lynn, Leal, Suzanne M., Ahmad, Wasim
Publicado em 2007

A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan

Por El-Shanti, Hatem, Daoud, Azhar, Sadoon, Ammar A., Leal, Suzanne M., Chen, Shan, Lee, Kwanghyuk, Spiegel, Ronald
Publicado no Brain Dev (2006)

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene

Por Lee, Kwanghyuk, Amin ud Din, Mohammad, Ansar, Muhammad, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M.
Publicado em 2011

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3

Por Chishti, Muhammad Salman, Lee, Kwanghyuk, McDonald, Merry-Lynn, Hassan, Muhammad Jawad, Ansar, Muhammad, Ahmad, Wasim, Leal, Suzanne M
Publicado em 2009

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2–q13.32

Por Tariq, Aamira, Santos, Regie Lyn P., Khan, Mohammad Nasim, Lee, Kwanghyuk, Hassan, Muhammad Jawad, Ahmad, Wasim, Leal, Suzanne M.
Publicado em 2006

Autosomal Dominant Progressive Sensorineural Hearing Loss Due to a Novel Mutation in the KCNQ4 Gene

Por Arnett, Jameson, Emery, Sarah B., Kim, Theresa B., Boerst, Angelique K., Lee, Kwanghyuk, Leal, Suzanne M., Lesperance, Marci M.
Publicado em 2011

Novel CLDN14 Mutations in Pakistani Families With Autosomal Recessive Non-Syndromic Hearing Loss

Por Lee, Kwanghyuk, Ansar, Muhammad, Andrade, Paula B., Khan, Bushra, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M.
Publicado em 2012

Terminal Osseous Dysplasia With Pigmentary Defects (TODPD): Follow-Up of the First Reported Family, Characterization of the Radiological Phenotype, and Refinement of the Linkage Re...

Por Brunetti-Pierri, Nicola, Lachman, Ralph, Lee, Kwanghyuk, Leal, Suzanne M., Piccolo, Pasquale, Van den Veyver, Ignatia B., Bacino, Carlos A.
Publicado em 2010

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

The genetics of colored sequence synesthesia: Suggestive evidence of linkage to 16q and genetic heterogeneity for the condition

Por Tomson, Steffie N., Avidan, Nili, Lee, Kwanghyuk, Sarma, Anand K., Tushe, Rejnal, Milewicz, Dianna M., Bray, Molly, Leal, Suzanne M., Eagleman, David M.
Publicado em 2011

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13

Por Ansar, Muhammad, Lee, Kwanghyuk, Naqvi, Syed Kamran-ul-Hassan, Andrade, Paula B., Basit, Sulman, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M.
Publicado em 2011

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2

Por Santos, Regie Lyn P., Hassan, Muhammad Jawad, Sikandar, Shaheen, Lee, Kwanghyuk, Ali, Ghazanfar, Martin, Protacio E., Wambangco, Michael Angelo L., Ahmad, Wasim, Leal, Suzanne M.
Publicado em 2006

Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3

Por Ali, Ghazanfar, Lee, Kwanghyuk, Andrade, Paula B., Basit, Sulman, Santos-Cortez, Regie Lyn P., Chen, Leon, Jelani, Musharraf, Ansar, Muhammad, Ahmad, Wasim, Leal, Suzanne M.
Publicado em 2011

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2

Por Basit, Sulman, Lee, Kwanghyuk, Habib, Rabia, Chen, Leon, Umm-e-Kalsoom, Santos-Cortez, Regie Lyn P., Azeem, Zahid, Andrade, Paula, Ansar, Muhammad, Ahmad, Wasim, Leal, Suzanne M.
Publicado em 2010

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)

Por McBride, Kim L, Zender, Gloria A, Fitzgerald-Butt, Sara M, Koehler, Daniel, Menesses-Diaz, Andres, Fernbach, Susan, Lee, Kwanghyuk, Towbin, Jeffrey A, Leal, Suzanne, Belmont, John W
Publicado em 2009

Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32

Por Gajecka, Marzena, Radhakrishna, Uppala, Winters, Daniel, Nath, Swapan K., Rydzanicz, Malgorzata, Ratnamala, Uppala, Ewing, Kimberly, Molinari, Andrea, Pitarque, Jose A., Lee, Kwanghyuk, Leal, Suzanne M., Bejjani, Bassem A.
Publicado no Invest Ophthalmol Vis Sci (2008)

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment

Por Santos, Regie Lyn P., El-Shanti, Hatem, Sikandar, Shaheen, Lee, Kwanghyuk, Bhatti, Attya, Yan, Kai, Chahrour, Maria H., McArthur, Nathan, Pham, Thanh L., Mahasneh, Amjad Abdullah, Ahmad, Wasim, Leal, Suzanne M.
Publicado em 2005

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3

Por Hassan, Muhammad Jawad, Santos, Regie Lyn P., Rafiq, Muhammad Arshad, Chahrour, Maria H., Pham, Thanh L., Wajid, Muhammad, Hijab, Nadine, Wambangco, Michael, Lee, Kwanghyuk, Ansar, Muhammad, Yan, Kai, Ahmad, Wasim, Leal, Suzanne M.
Publicado em 2005