Neuro genetics

Intellectual disability in boys: mark the face!
Surya Saini, Bhanudeep Singanamala, Arushi Gahlot Saini

BMJ Case Reports CP May 2019, 12 (5) e229271; DOI: 10.1136/bcr-2019-229271
Slowly progressive distal muscle weakness: neuropathy or myopathy?
Yafit Nahari, Ahmed Abbas, Elizabeth Curtis, Saiju Jacob

BMJ Case Reports CP Apr 2019, 12 (4) e226903; DOI: 10.1136/bcr-2018-226903
Late-onset presentation of POLG1-associated mitochondrial disease
Bruna Meira, Rafael Roque, Miguel Pinto, André Caetano

BMJ Case Reports CP Mar 2019, 12 (3) e228482; DOI: 10.1136/bcr-2018-228482
Harding’s disease: an important MS mimic
Stuti Joshi, Allan G Kermode

BMJ Case Reports CP Mar 2019, 12 (3) e228337; DOI: 10.1136/bcr-2018-228337
Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome
Daphna Prat, Iris Ben Bassat Mizrachi, Vicktoria Vishnevskia-Dai

BMJ Case Reports CP Feb 2019, 12 (2) bcr-2017-224079; DOI: 10.1136/bcr-2017-224079
Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene
Anudeep Yelam, Elanagan Nagarajan, Miguel Chuquilin, Raghav Govindarajan

BMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-227755; DOI: 10.1136/bcr-2018-227755
Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literature
Subhanudh Thavaraputta, Suzanne Graham, Ana M Rivas Mejia, Joaquin Lado-Abeal

BMJ Case Reports CP Jan 2019, 12 (1) bcr-2018-226702; DOI: 10.1136/bcr-2018-226702
Difficult case of a rare form of familial Alzheimer’s disease with PSEN1 P117L mutation
Ana Luísa Rocha, Andreia Costa, Maria Carolina Garrett, Joana Meireles

BMJ Case Reports CP Nov 2018, 11 (1) e226664; DOI: 10.1136/bcr-2018-226664
Anti-HMGCR antibody-associated necrotising myopathy and its association with statin use
Ylenia Abdilla, Charmaine Chircop, Norbert Vella

Case Reports Nov 2018, 2018 bcr-2018-226302; DOI: 10.1136/bcr-2018-226302
Hereditary sensory and autonomic neuropathy in a male child: ‘The other side of not feeling pain’
Nripen Gaur, Rachna Meel, Shahnaz Anjum, Pallavi Singh

Case Reports Sep 2018, 2018 bcr-2018-226873; DOI: 10.1136/bcr-2018-226873

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CLINICAL
- Anaesthesia (2)
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- Diagnostics
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- Ear, nose and throat/otolaryngology (5)
- Emergency medicine
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  - Resuscitation (1)
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- Emergency medicine (18)
- Endocrinology
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  - Drugs: endocrine system (1)
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- Endocrinology (22)
- Evidence based practice
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- Gastroenterology
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- General practice / family medicine (8)
- Genetics
  - Clinical genetics
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  - Molecular genetics
- Genetics (9)
- Geriatric medicine
  - Elder abuse
  - End of life decisions (geriatric medicine)
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- Geriatric medicine (3)
- Haematology (incl blood transfusion) (14)
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  - Hospice
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- Palliative care (1)
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  - Chemical pathology
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NON-CLINICAL
- Communication
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  - Experiments in vivo
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- Health policy
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- Medical careers
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  - Combining life and work
  - Communication
  - Continuous professional development
  - Flexible training
  - Getting and changing jobs
  - Getting and changing jobs (including job descriptions and contracts)
  - Leaving medicine
  - Medical careers
  - Organise and prepare your CV
  - Organise working abroad
  - Pay, working conditions, and health
  - Personal development
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  - Professional conduct and regulation
  - Professional regulation and standards
  - Retirement
- Medical education
  - History taking and the physical examination
  - Postgraduate
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- Medical education (1)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety
  - Quality improvement
- Medical management (4)
- Occupational and environmental medicine (4)
- Patients
- Public health
  - Abuse (child, partner, elder)
  - Air pollution
  - Alcohol
  - Drug misuse
  - Environmental issues
  - Health education
  - Health of indigenous peoples
  - Health promotion
  - Homicide
  - Housing and health
  - Human rights
  - Injury
  - Obesity (public health)
  - Screening (public health)
  - Sexual health (public health)
  - Smoking
  - Social conditions and disease
  - Suicide (public health)
  - Urban health
  - Vaccination programs
  - Violence (other)
  - Violence against women
- Public health (6)
- Smoking and tobacco
- Sociology
- Statistics and research methods
  - Comparative effectiveness research
  - Qualitative research
  - Quantitative research
- Statistics and research methods
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Neuro genetics

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