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2019
Ullah, Irfan, Kakar, Naseebullah, Schrauwen, Isabelle 
ORCID: 0000-0001-7310-6082, Hussain, Shabir ORCID: 0000-0001-5744-4292, Chakchouk, Imen, Liaqat, Khurram, Acharya, Anushree, Wasif, Naveed, Santos-Cortez, Regie Lyn P., Khan, Saadullah ORCID: 0000-0001-5037-1473, Aziz, Abdul, Lee, Kwanghyuk, Couthouis, Julien, Horn, Denise, Kragesteen, Bjort K., Spielmann, Malte, Thiele, Holger, Nickerson, Deborah A., Bamshad, Michael J., Gitler, Aaron D., Ahmad, Jamil, Ansar, Muhammad ORCID: 0000-0001-5891-7063, Borck, Guntram, Ahmad, Wasim and Leal, Suzanne M.
(2019).
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Hum. Genet., 138 (6).
S. 593 - 601.
NEW YORK:
SPRINGER.
ISSN 1432-1203
2014
Khan, Muzammil A., Rupp, Verena M., Orpinell, Meritxell, Hussain, Muhammad S., Altmueller, Janine, Steinmetz, Michel O., Enzinger, Christian, Thiele, Holger, Hoehne, Wolfgang, Nuernberg, Gudrun, Baig, Shahid M., Ansar, Muhammad ORCID: 0000-0001-5891-7063, Nuernberg, Peter, Vincent, John B., Speicher, Michael R., Goenczy, Pierre and Windpassinger, Christian
(2014).
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum. Mol. Genet., 23 (22).
S. 5940 - 5950.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083