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2. Patient reported quality of life in limb girdle muscular dystrophy

3. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

5. Effects of HMGCR deficiency on skeletal muscle development

7. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource

8. Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets

18. Growth charts in Cockayne syndrome type 1 and type 2

19. Diagnoses of muscular dystrophy in a veterans health system.

21. POLRMT mutations impair mitochondrial transcription causing neurological disease

26. List of Contributors

30. Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

32. Child Neurology: Chronic inflammatory demyelinating polyradiculoneuropathy in childrenSYMBOL

38. The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

39. Epilogue

44. Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity

46. Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

49. Contributors

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