James G. Coldwell

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome

James F. Reynolds, Giovanni Neri, Jürgen Herrmann et al. · American Journal of Medical Genetics · 1986 · 219 citations

Medicine, Cardiology, Pediatrics +17

Phenylketonuria in adulthood: A collaborative study

Richard Koch, Barbara K. Burton, George Hoganson et al. · Journal of Inherited Metabolic Disease · 2002 · 215 citations

Medicine, Endocrinology, Pediatrics +3

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

Melissa B. Ramocki, Magdalena Bartnik, Przemysław Szafrański et al. · The American Journal of Human Genetics · 2010 · 98 citations · Full text

Medicine, Neurology, Epilepsy +16

Quantitative amino acid analysis using a Beckman system gold HPLC 126AA analyzer

Yong Qu, Jun Fu, Wendy E Rasmussen et al. · Clinica Chimica Acta · 2001 · 83 citations

Natural Sciences, Biochemistry, Chemistry +14