檢索結果 - Mohammad Shboul

Genetic diagnosis of Jordanian patients with glycogen storage diseases 由 Mohammad Shboul, Mohammed El-Khateeb, Rajaa Fathallah

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Outcomes of genetic testing and prenatal diagnosis of spinal muscular atrophy in Jordan 由 Mohammad Shboul, Mohammed El-Khateeb, Rajaa Fathallah, Khadeeja Al-Rashed

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Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis 由 Jumana Albaramki, Haitham Dmour, Mohammad Shboul, Carine Bonnard, Byrappa Venkatesh, Rasha Odeh

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Plasma miRNAs as potential biomarkers for schizophrenia in a Jordanian cohort 由 Mohammad Shboul, Amal Bani Domi, Abdulmalek Abu Zahra, Aws G. Khasawneh, Reem Darweesh

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Whole-exome sequencing for prenatal diagnosis of fetal anomalies: insights from a Jordanian cohort 由 Mohammad Shboul, Nadia Badaro, Reem Darweesh, Rajaa Fathallah, Mohammed El-Khateeb, Oqba Al-Kuran

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Torticollis in Connection with Spine Phenotype 由 Ali Al Kaissi, Nabil Nassib, Sami Bouchoucha, Mohammad Shboul, Franz Grill, Susanne Gerit Kircher, Polina Ochirova, Sergey Ryabykh

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The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study 由 Mohammad Shboul, Hela Sassi, Houweyda Jilani, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Lamia Ben Jemaa, Marwa Hilmi, Susanna Gerit Kircher, Ali Al Kaissi

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Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis 由 Samah K. Aburahma, Liqa A. Rousan, Mohammad Shboul, Fabio Biella, Sabrina Lucchiari, Giacomo Pietro Comi, Giacomo Pietro Comi, Giovanni Meola, Giovanni Meola, Serena Pagliarani

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Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities 由 Ali Al Kaissi, Sergey Ryabykh, Nabil Nassib, Sami Bouchoucha, Lamia Benjemaa, Imen Rejeb, Syrine Hizem, Vladimir Kenis, Franz Grill, Susanne Gerit Kircher, Mohammad Shboul, Farid Ben Chehida

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A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability 由 Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade

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Long-Term Culture of Self-renewing Pancreatic Progenitors Derived from Human Pluripotent Stem Cells 由 Jamie Trott, Ee Kim Tan, Sheena Ong, Drew M. Titmarsh, Simon L.I.J. Denil, Maybelline Giam, Cheng Kit Wong, Jiaxu Wang, Mohammad Shboul, Michelle Eio, Justin Cooper-White, Simon M. Cool, Giulia Rancati, Lawrence W. Stanton, Bruno Reversade, N. Ray Dunn

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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing 由 Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker‐Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El‐Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande‐Beillard, Andreas Mayer, Bruno Reversade

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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex 由 Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie Escande-Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner

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