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Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice
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Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

Shaheen, Ranad ; Anazi, Shams ; Ben-Omran, Tawfeg ; Seidahmed, Mohammed Zain ; Caddle, L. Brianna ; Palmer, Kristina ; Ali, Rehab ; Alshidi, Tarfa ; Hagos, Samya ; Goodwin, Leslie ; Hashem, Mais ; Wakil, Salma M. ; Abouelhoda, Mohamed ; Colak, Dilek ; Murray, Stephen A. ; Alkuraya, Fowzan S.

American journal of human genetics, 2016-04, Vol.98 (4), p.643-652 [Periódico revisado por pares]

United States: Elsevier Inc

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2
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome
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GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

Patel, Nisha ; Shamseldin, Hanan E. ; Sakati, Nadia ; Khan, Arif O. ; Softa, Ameen ; Al-Fadhli, Fatima M. ; Hashem, Mais ; Abdulwahab, Firdous M. ; Alshidi, Tarfa ; Alomar, Rana ; Alobeid, Eman ; Wakil, Salma M. ; Colak, Dilek ; Alkuraya, Fowzan S.

American journal of human genetics, 2017-05, Vol.100 (5), p.831-836 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

Stephen, Joshi ; Maddirevula, Sateesh ; Nampoothiri, Sheela ; Burke, John D. ; Herzog, Matthew ; Shukla, Anju ; Steindl, Katharina ; Eskin, Ascia ; Patil, Siddaramappa J. ; Joset, Pascal ; Lee, Hane ; Garrett, Lisa. J. ; Yokoyama, Tadafumi ; Balanda, Nicholas ; Bodine, Steven P. ; Tolman, Nathanial J. ; Zerfas, Patricia M. ; Zheng, Allison ; Ramantani, Georgia ; Girisha, Katta M. ; Rivas, Cecilia ; Suresh, Pujar V. ; Elkahloun, Abdel ; Alsaif, Hessa S. ; Wakil, Salma M. ; Mahmoud, Laila ; Ali, Rehab ; Prochazkova, Michaela ; Kulkarni, Ashok B. ; Ben-Omran, Tawfeg ; Colak, Dilek ; Morris, H. Douglas ; Rauch, Anita ; Martinez-Agosto, Julian A. ; Nelson, Stanley F. ; Alkuraya, Fowzan S. ; Gahl, William A. ; Malicdan, May Christine V.

American journal of human genetics, 2018-12, Vol.103 (6), p.948-967 [Periódico revisado por pares]

United States: Elsevier Inc

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