Infantile Metachromatic Leukodystrophy
NEJM 288:1365, 14051973., Leroy,J.,et al, 1973
Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,et al, 1973
Tay-Sachs Disease-The Use of Tears for the Detection of Heterozygotes
NEJM 289:1072, Carmody,P.,et al, 1973
Hereditary Quadriceps Myopathy
JNNP 36:1041, Espir,M.L.E.,et al, 1973
Maternal Epilepsy & Abnormalities of the Fetus & Newborn
Lancet 839, Oct1972., Speidel,B.,et al, 1972
Presymptomatic Detection of Huntington's Chorea
BMJ 540, 1972 Sept., , 1972
Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972
Familiar Basilar Impression
Neurol 22:554, Paradis,R.,et al, 1972
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Pediatric Neurology
Psych Annals 2:1, , 1972
Ethical & Social Issues in Screening for Genetic Disease-Screening for Genetic Disease-A Group Report
NEJM 286:1129, 1972, 286:1155972., , 1972
Use of L-Dopa in the Detection of Presymptomatic Huntington's Chorea
NEJM 286:1332, Klawans,H.,et al, 1972
Machado Disease-a Hereditary Ataxia in Portuguese Emigrants to Mass
Neurol 22:49, Nakano,K.K.,et al, 1972
Preclinical Detection of Dystrophia Myotonica
BMJ 124, 1972 April., , 1972
Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
(Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972
Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972
The Mucopolysaccharidoses
(Ed) , 4th Edition, the C. V. Mosby Co, 1971, Chp. 11, p. p. 521-686., McKusick,V.A., 1971
Dominant Juvenile Optic Atrophy
Arch Ophthalmol 85:133, Caldwell,J.,et al, 1971
Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970
Hunter's Syndrome, In Recognizable Patterns Of Human Malformation, Genetic, Embryologic, & Clinical Aspects, by Smith
W. B. , Saunders Co. , 1970, 248-249., David,W., 1970
Ocular Myopathy
Arch Neurol 20:1, Magora,A.,et al, 1969
Myopathy of the Quadriceps Muscles
J Neurol Sci 7:201, VanWijngaarden,G.K.,et al, 1968
The Oculopharyngeal Syndrome
JAMA 203:1003, Murphy,S.F.,et al, 1968
Spastic Pseudosclerosis (Creutzfeldt-Jakob Dis) Van Rossum A. , In:Vinken, P. J.
Handbk of Clin Neurol Vol 6 North-Holland Publ. Amster 1968 Ch 28, p 726., Bruyn,G.W., 1968
Huntington's Chorea
Bruyn, G. W. In Vinken & Bruyn, Handbk of Clin Neurol, North-Holland Publ Co, Amsterdam, 6:298, , 1968
Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966
Inherited Aminoacidopathies Demonstrating Vitamin Dependency
NEJM 281:145, Rosenberg,L., 1965
Morquio's Disease, A Radiologic & Morphologic Study
Pediatrics 34:839-850, Schenk,E.A.&Haggerty,J., 1964
Familial and Conjugal Multiple Sclerosis
Brain 86:315-332, Schapira,K.,et al, 1963
The Cornelia de Lange Syndrome
J Pediatr 63:1000-1020, Ptacek,L.J., 1963
Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962
Microcephaly
Arch Dis Child 37:623-627, Davies,H.,et al, 1962