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Journal Article
Lessel, Davor 
ORCID: 0000-0003-4496-244X, Ozel, Ayse Bilge, Campbell, Susan E., Saadi, Abdelkrim, Arlt, Martin F., McSweeney, Keisha Melodi, Plaiasu, Vasilica, Szakszon, Katalin, Szollos, Anna, Rusu, Cristina, Rojas, Armando J., Lopez-Valdez, Jaime, Thiele, Holger, Nuernberg, Peter, Nickerson, Deborah A., Bamshad, Michael J., Li, Jun Z., Kubisch, Christian, Glover, Thomas W. and Gordon, Leslie B.
(2018).
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Hum. Genet., 137 (11-12).
S. 921 - 940.
NEW YORK:
SPRINGER.
ISSN 1432-1203
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