Cenani–Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways
Al‐Qattan, Mohammad M., Alkuraya, Fowzan S.
Published in American journal of medical genetics. Part A (01.02.2019)
Published in American journal of medical genetics. Part A (01.02.2019)
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Journal Article
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
Alsufayan, Faris A. S., Rafique, Atif, Jarman, Abdulaziz, Al-Hassnan, Zuhair N., Rahbeeni, Zuhair A., al-Qattan, Mohammad M., Mahabbat, Nehal
Published in Case reports in genetics (2020)
Published in Case reports in genetics (2020)
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Journal Article
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
Shaheen, Ranad, Jiang, Nan, Alzahrani, Fatema, Ewida, Nour, Al-Sheddi, Tarfa, Alobeid, Eman, Musaev, Damir, Stanley, Valentina, Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous, Alshenqiti, Abduljabbar, Sonmez, Fatma Mujgan, Saqati, Nadia, Alzaidan, Hamad, Al-Qattan, Mohammad M., Al-Mohanna, Futwan, Gleeson, Joseph G., Alkuraya, Fowzan S.
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Journal Article
Lethal variants in humans: lessons learned from a large molecular autopsy cohort
Shamseldin, Hanan E, AlAbdi, Lama, Maddirevula, Sateesh, Alsaif, Hessa S, Alzahrani, Fatema, Ewida, Nour, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Kuwahara, Hiroyuki, Gao, Xin, Alkuraya, Fowzan S
Published in Genome medicine (13.10.2021)
Published in Genome medicine (13.10.2021)
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Journal Article
Fixation at the Inferior Orbital Rim in Medially Rotated Zygomatic Complex Fractures
Al-Qattan, Mohammad M, Gelidan, Adnan
Published in Plastic and reconstructive surgery. Global open (01.08.2021)
Published in Plastic and reconstructive surgery. Global open (01.08.2021)
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