Search Results - "Ibrahim, Niema A."

Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly by Mohamed, Jawahir Y., Faqeih, Eissa, Alsiddiky, Abdulmonem, Alshammari, Muneera J., Ibrahim, Niema A., Alkuraya, Fowzan S.

“…Klippel-Feil syndrome (KFS) is a segmentation malformation of the cervical spine; clinically, it manifests as a short neck with reduced mobility and a low…”
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Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities by Alrakaf, Laila, Al‐Owain, Mohammed A., Busehail, Maryam, Alotaibi, Maha A., Monies, Dorota, Aldhalaan, Hesham M., Alhashem, Amal, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair A., Murshedi, Fathiya Al, Ani, Nadia Al, Al‐Maawali, Almundher, Ibrahim, Niema A., Abdulwahab, Firdous M., Alsagob, Maysoon, Hashem, Mais O., Ramadan, Wafaa, Abouelhoda, Mohamed, Meyer, Brian F., Kaya, Namik, Maddirevula, Sateesh, Alkuraya, Fowzan S.

“…Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. After we…”
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A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene by Çatli, Gönül, Abaci, Ayhan, Anik, Ahmet, Shaneen, Ranad, Tuhan, Hale Ünver, Erçal, Derya, Böber, Ece, Ibrahim, Niema A, Hashem, Mais O, Alkuraya, Fowzan Sami

“…Achondrogenesis type 2/hypochondrogenesis is a rare cause of micromelic dwarfism in the neonatal period. Severe short stature, narrow chest, increased…”
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