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Journal of Inherited Metabolic Disease|September 3, 2014
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipidsSaskia B Wortmann, Marc Espeel, Ligia Almeida, et al.Journal of the Association for Research in Otolaryngology : JARO|May 24, 2006
A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlationRutger F Plantinga, Arjan P M de Brouwer, Patrick L M Huygen, et al.Clinical Case Reports|December 28, 2020
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i>Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, et al.Neurology. Genetics|August 16, 2018
Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, et al.American Journal of Medical Genetics. Part A|March 18, 2009
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thoraxDorien Lugtenberg, Arjan P M de Brouwer, Astrid R Oudakker, et al.International Journal of Pediatric Otorhinolaryngology|November 21, 2007
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment familiesFatemeh Alasti, Mohammad Hossein Sanati, Amir Hossein Behrouzifard, et al.Journal of Medical Genetics|August 6, 2021
Biallelic <i>GINS2</i> variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosisMaria J Nabais Sá, Kerry A Miller, Mary McQuaid, et al.American Journal of Medical Genetics. Part A|November 5, 2011
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopiaMargriet van Kogelenberg, Margherita Lerone, Teresa De Toni, et al.Pediatric Neurology|August 12, 2009
Neurologic aspects of MECP2 gene duplication in male patientsBernard Echenne, Agathe Roubertie, Dorien Lugtenberg, et al.Molecular Syndromology|February 20, 2018
Two Novel Pathogenic <i>MID1</i> Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB SyndromeNuno Maia, Maria J Nabais Sá, Nataliya Tkachenko, et al.Pageof 11