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3. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

5. Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

6. USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

7. Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

8. Renal Teratogens

9. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

11. TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

12. TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

17. Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome

19. Variation in Recovery

20. Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies

21. L-Histidine Decarboxylase and Tourette's Syndrome

24. Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

27. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome

31. Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype

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