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NPJ Genomic Medicine|November 29, 2022
Brain single cell transcriptomic profiles in episodic memory phenotypes associated with temporal lobe epilepsyRobyn M Busch, Lamis Yehia, Bo Hu, et al.
European Journal of Endocrinology|October 6, 2022
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiencyRachel Fourneaux, Rachel Reynaud, Gregory Mougel, et al.
The Journal of Clinical Endocrinology and Metabolism|November 9, 2004
Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paragangliomaSarah R McWhinney, Robert T Pilarski, Shawnia R Forrester, et al.
Assessment|December 31, 2009
Autism spectrum disorders as a qualitatively distinct category from typical behavior in a large, clinically ascertained sampleThomas W Frazier, Eric A Youngstrom, Leslie Sinclair, et al.
The New England Journal of Medicine|September 28, 2007
Evidence of MEN-2 in the original description of classic pheochromocytomaHartmut P H Neumann, Alexander Vortmeyer, Dieter Schmidt, et al.
European Journal of Endocrinology|February 27, 2014
Bilateral neck exploration in patients with primary hyperparathyroidism and discordant imaging results: a single-centre studyMelanie Philippon, Carole Guerin, David Taieb, et al.
The Journal of Clinical Endocrinology and Metabolism|June 11, 2009
Long-term results of stereotactic radiosurgery in secretory pituitary adenomasFrederic Castinetti, Mariko Nagai, Isabelle Morange, et al.
International Journal of Cancer|March 29, 2002
Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from SpainTrinidad Caldes, Javier Godino, Miguel de la Hoya, et al.
Autism : the International Journal of Research and Practice|October 10, 2013
Demographic and clinical correlates of autism symptom domains and autism spectrum diagnosisThomas W Frazier, Eric A Youngstrom, Rebecca Embacher, et al.
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