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Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

Journal of medical genetics, 2009-03, Vol.46 (3), p.203-208

2009

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Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei

Neurology, 1995-04, Vol.45 (4), p.677

1995

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Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females

American journal of human genetics, 1994-06, Vol.54 (6), p.989-1003

1994

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Diagnosis of dystrophinopathies: Review for the clinician

Pediatric Neurology, 1993, Vol.9 (1), p.3-9

1993

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Isoflurane for refractory status epilepticus: a clinical series

Anesthesiology (Philadelphia), 1989-11, Vol.71 (5), p.653-659

1989

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Tardive dyskinesia associated with use of metoclopramide in a child

The Journal of pediatrics, 1992-12, Vol.121 (6), p.983-985

1992

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Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families

Neurology, 1993-04, Vol.43 (4), p.668

1993

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Zoledronate, Smoking, and Obesity Are Strong Risk Factors for Osteonecrosis of the Jaw: A Case-Control Study

Journal of oral and maxillofacial surgery, 2008-04, Vol.66 (4), p.625-631

2008

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Spinal muscular atrophy

Pediatric annals, 1989-07, Vol.18 (7), p.421

Wessel, H B

1989

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Management of facial palsy caused by birth trauma

The Laryngoscope, 1986-04, Vol.96 (4), p.381-384

1986

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Dystrophin: A clinical perspective

Pediatric Neurology, 1990, Vol.6 (1), p.3-12

Wessel, Henry B

1990

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X inactivation and dystrophin studies in a t(X;12) female: Evidence for biochemical normalization in Duchenne muscular dystrophy carriers

American journal of medical genetics, 1992-08, Vol.43 (6), p.1012-1015

1992

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Inability to induce fragile sites at CTG repeats in congenital myotonic dystrophy

American journal of medical genetics, 1996-12, Vol.66 (1), p.60-63

1996

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Infectious Mononucleosis with Airway Obstruction and Multiple Cranial Nerve Paresis

Otolaryngology-head and neck surgery, 1991-04, Vol.104 (4), p.529-532

1991

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Regurgitant reflux, vs non‐regurgitant reflux, is preceded by rectus abdominis contraction in infants

Neurogastroenterology and motility, 1994-12, Vol.6 (4), p.271-277

1994

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Myasthenia gravis associated with human T-cell lymphotropic virus type III infection

Pediatric neurology, 1987-07, Vol.3 (4), p.238-239

1987

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Field screening tests on molluscicides against Biomphalaria glabrata in flowing water

Bulletin of the World Health Organization, 1968, Vol.39 (2), p.316-320

1968

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Imipramine in absence and myoclonic-astatic seizures

Neurology, 1978-09, Vol.28 (9 Pt 1), p.953

1978

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Molluscicidal time-concentration relationships of Dinitrophenol compounds

Bulletin of the World Health Organization, 1965, Vol.33 (2), p.281-284

1965

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Thoracic outlet syndrome

Neurosurgery, 1988-01, Vol.22 (1 Pt 1), p.105-21

1988

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Congenital alopecia, seizures, and psychomotor retardation in three siblings

Pediatric neurology, 1987-03, Vol.3 (2), p.101-107

1987

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Effect of glycerol and hyperosmolality on intracranial pressure

Clinical pharmacology and therapeutics, 1982-04, Vol.31 (4), p.466-471

1982

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Multiple cystic encephalomalacia of infancy: computed tomographic findings in two cases with associated intracerebral calcification

Journal of computer assisted tomography, 1979-02, Vol.3 (1), p.97-102

1979

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Neonatal screening for Duchenne/Becker muscular dystrophy; Reconsideration based on molecular diagnosis and potential therapeutics

Screening (Amsterdam), 1992, Vol.1 (2), p.99-113

1992

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Prognosis of Biliary Atresia After 2-year Survival With Native Liver: A Nationwide Cohort Analysis

Journal of pediatric gastroenterology and nutrition, 2018-12, Vol.67 (6), p.689-694

2018

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Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females

Diagnosis of dystrophinopathies: Review for the clinician

Isoflurane for refractory status epilepticus: a clinical series

Tardive dyskinesia associated with use of metoclopramide in a child

Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families

Zoledronate, Smoking, and Obesity Are Strong Risk Factors for Osteonecrosis of the Jaw: A Case-Control Study

Spinal muscular atrophy

Management of facial palsy caused by birth trauma

Dystrophin: A clinical perspective

X inactivation and dystrophin studies in a t(X;12) female: Evidence for biochemical normalization in Duchenne muscular dystrophy carriers

Inability to induce fragile sites at CTG repeats in congenital myotonic dystrophy

Infectious Mononucleosis with Airway Obstruction and Multiple Cranial Nerve Paresis

Regurgitant reflux, vs non‐regurgitant reflux, is preceded by rectus abdominis contraction in infants

Myasthenia gravis associated with human T-cell lymphotropic virus type III infection

Field screening tests on molluscicides against Biomphalaria glabrata in flowing water

Imipramine in absence and myoclonic-astatic seizures

Molluscicidal time-concentration relationships of Dinitrophenol compounds

Thoracic outlet syndrome

Congenital alopecia, seizures, and psychomotor retardation in three siblings

Effect of glycerol and hyperosmolality on intracranial pressure

Multiple cystic encephalomalacia of infancy: computed tomographic findings in two cases with associated intracerebral calcification

Neonatal screening for Duchenne/Becker muscular dystrophy; Reconsideration based on molecular diagnosis and potential therapeutics

Prognosis of Biliary Atresia After 2-year Survival With Native Liver: A Nationwide Cohort Analysis

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