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Showing articles 0 to 36 of 36

Filter Applied: short stature (Click to remove)

Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015

A Prematurely Aging Patient Presenting with Severe Leukoaraiosis and Stroke
Neurol 78:e113-e114, Seixas,J.C.,et al, 2012

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995

MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984

A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021

Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

Short Stature, Imperforate Anus, and Polydactyly
Neurol 84:e117, Dumitrascu, O.,et al, 2015

Growth Hormone Treatment for Childhood Short Stature and Risk of Stroke in Early Adulthood
Neurol 83:780-786, Poidvin, a.,et al, 2014

Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
Adams & Victors Principles of Neurology, Chp 30, pg 628, Ropper, A.H.,et al, 2014

Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006

A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005

Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005

Craniofacial and Cutaneous Findings Expand the Phenotype of Hereditary Neuralgic Amyotrophy
Neurol 57:1963-1968, Jeannet,P.,et al, 2001

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994

Accelerated Aging of the Brain in Werner's Syndrome
Neurol 42:922-924, Kakigi,R.,et al, 1992

Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992

Physical Features of Prader-Willi Syndrome in Neonates
Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990

Natural History of the Fetal Alcohol Syndrome:A 10-Year Follow-Up of Eleven Patients
Lancet 2:85-91, Streissguth,A.P.,et al, 1985

Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985

Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983

Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983

Child Abuse as a Cause of Post-Traumatic Hypopituitarism
NEJM 302:724-728, Miller,W.L.,et al, 1980

Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978

Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978

A Case of Schwartz-Jampel Syndrome with Unusual Muscle Biopsy Findings
Ann Neurol 3:93, Fariello,R.,et al, 1978

Prader-Willi-Syndrome, In Endocrine & Genetic Diseases of Childhood & Adolescence
(Ed) , 1975. W. B. Saunders Co, p, Gardner,L.I., 1975

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

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

Morquio's Disease, A Radiologic & Morphologic Study
Pediatrics 34:839-850, Schenk,E.A.&Haggerty,J., 1964



Showing articles 0 to 36 of 36