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Bariatric surgery in end-stage kidney disease-removing a barrier to transplantation

The New Zealand medical journal, 2024, Vol.137 (1592), p.100-102

2024

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Frontometaphyseal dysplasia 1 in a patient from Sri Lanka

American journal of medical genetics. Part A, 2021, Vol.185 (4), p.1317-1320

2021

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Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

Genes, 2021, Vol.12 (4)

2021

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Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

American journal of medical genetics. Part A, 2021, Vol.185 (12), p.3814-3820

2021

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Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis

Genes, 2020, Vol.11 (12)

2020

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A Case of Treatment Resistance and Complications in a Patient with Stiff Person Syndrome and Cerebellar Ataxia

Tremor and other hyperkinetic movements (New York, N.Y.), 2019, Vol.9

2019

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Arterial tortuosity in patients with Filamin A- associated vascular aneurysms

American journal of medical genetics. Part A, 2014, Vol.164A (11), p.2961-2963

2014

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Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion

American Journal of Medical Genetics Part A, 2013, Vol.161A (3), p.594-599

2013

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Congenital toxoplasmosis

The Medical journal of Australia, 1989, Vol.150 (2), p.110-110

1989

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Antibody patterns in the serological diagnosis of toxoplasmosis

Australian and New Zealand journal of medicine, 1988, Vol.18 (6), p.811-812

1988

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A neurological presentation of intravascular B-cell lymphoma

BMJ Case Reports, 2012, Vol.2012

2012

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Treatment of recalcitrant orogenital ulceration of Behçet's syndrome with infliximab

Rheumatology (Oxford, England), 2001, Vol.40 (4), p.473-474

2001

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AIDS: education and adults with a mental handicap

Journal of Intellectual Disability Research, 1991, Vol.35 (5), p.475-480

1991

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Rubella in mothers

Lancet (London, England), 1996, Vol.347 (9010), p.1262-1262

1996

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Alterations in Memory for Text by Leading Questions

Robertson, Scott P

1982

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Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: Clinical, pathological, and molecular findings

American Journal of Medical Genetics Part A, 2007, Vol.143A (10), p.1120-1125

2007

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Trader Willi syndrome with hypothyroidism

Journal of Intellectual Disability Research, 1989, Vol.33 (3), p.235-244

1989

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Overwhelming pneumococcal sepsis in healthy adults years after splenectomy

Lancet (London, England), 1987, Vol.1 (8524), p.110-111

1987

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Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6

Journal of neurology, neurosurgery, and psychiatry, 2003, Vol.74 (10), p.1444-1445

2003

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Mutations in FLNB cause boomerang dysplasia

Journal of medical genetics, 2005, Vol.42 (7), p.e43-e43

2005

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Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia

Journal of medical genetics, 2000, Vol.37 (12), p.959-964

2000

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Hereditary haemorrhagic telangiectasia manifesting as subdural empyema

British Journal of Neurosurgery, 2016, Vol.30 (3), p.356-358

2016

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Significant methemoglobinemia with bovine hemoglobin infusion in a case with severe autoimmune hemolytic anemia

Transfusion, 2016, Vol.56 (3), p.777-778

2016

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Oral vitamin B12 supplement is delivered to the distal gut, altering the corrinoid profile and selectively depleting Bacteroides in C57BL/6 mice

Gut Microbes, 2019, Vol.10 (6), p.654-662

2019

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Vagus nerve stimulation reverses the extinction impairments in a model of PTSD with prolonged and repeated trauma

Stress, 2019, Vol.22 (4), p.509-520

2019

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Bariatric surgery in end-stage kidney disease-removing a barrier to transplantation

Frontometaphyseal dysplasia 1 in a patient from Sri Lanka

Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis

A Case of Treatment Resistance and Complications in a Patient with Stiff Person Syndrome and Cerebellar Ataxia

Arterial tortuosity in patients with Filamin A- associated vascular aneurysms

Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion

Congenital toxoplasmosis

Antibody patterns in the serological diagnosis of toxoplasmosis

A neurological presentation of intravascular B-cell lymphoma

Treatment of recalcitrant orogenital ulceration of Behçet's syndrome with infliximab

AIDS: education and adults with a mental handicap

Rubella in mothers

Alterations in Memory for Text by Leading Questions

Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: Clinical, pathological, and molecular findings

Trader Willi syndrome with hypothyroidism

Overwhelming pneumococcal sepsis in healthy adults years after splenectomy

Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6

Mutations in FLNB cause boomerang dysplasia

Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia

Hereditary haemorrhagic telangiectasia manifesting as subdural empyema

Significant methemoglobinemia with bovine hemoglobin infusion in a case with severe autoimmune hemolytic anemia

Oral vitamin B12 supplement is delivered to the distal gut, altering the corrinoid profile and selectively depleting Bacteroides in C57BL/6 mice

Vagus nerve stimulation reverses the extinction impairments in a model of PTSD with prolonged and repeated trauma

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