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Bone|October 14, 2018
Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola diseaseMohammad Shboul, Paul Roschger, Rudolf Ganger, et al.
Clinical Chemistry and Laboratory Medicine|August 14, 2010
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemiaChristos Shammas, Thessalia Papasavva, Xenia Felekis, et al.
Elife|May 23, 2018
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disabilityPoh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, et al.
Stem Cell Reports|June 8, 2017
Long-Term Culture of Self-renewing Pancreatic Progenitors Derived from Human Pluripotent Stem CellsJamie Trott, Ee Kim Tan, Sheena Ong, et al.
Cellular and Molecular Life Sciences : CMLS|October 18, 2018
Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged-Notch signaling in fin and limb developmentJing Tian, Jinhui Shao, Cong Liu, et al.
EMBO Molecular Medicine|January 18, 2023
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencingNasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, et al.
Cancer Cell|February 27, 2018
Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPSTakuji Yamauchi, Takeshi Masuda, Matthew C Canver, et al.
European Journal of Medical Genetics|April 2, 2018
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndromeCarine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, et al.
American Journal of Human Genetics|March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaShifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
Neuron|December 19, 2014
Katanin p80 regulates human cortical development by limiting centriole and cilia numberWen F Hu, Oz Pomp, Tawfeg Ben-Omran, et al.
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