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Results 1 - 20 of 319  for All Library Resources

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1
Neutral lipid storage disease with ichthyosis and fatty liver
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Article
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Neutral lipid storage disease with ichthyosis and fatty liver

BMJ case reports, 2024-05, Vol.17 (5), p.e259962 [Peer Reviewed Journal]

2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2024-259962 ;PMID: 38749519

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2
Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters
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Article
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Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters

BMJ case reports, 2024-03, Vol.17 (3), p.e247864 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2021-247864 ;PMID: 38442972

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3
Bronchogenic cyst: a rare cause of palpitations and atrial fibrillation
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Article
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Bronchogenic cyst: a rare cause of palpitations and atrial fibrillation

BMJ case reports, 2024-03, Vol.17 (3), p.e259480 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-259480 ;PMID: 38442975

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4
Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)
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Article
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Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)

BMJ case reports, 2022-09, Vol.15 (9), p.e251118 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2022-251118 ;PMID: 36123010

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5
Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition
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Article
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Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition

BMJ case reports, 2024-01, Vol.17 (1), p.e256859 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-256859 ;PMID: 38233004

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6
Hydrometrocolpos: antenatal diagnosis and postnatal management
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Article
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Hydrometrocolpos: antenatal diagnosis and postnatal management

BMJ case reports, 2023-12, Vol.16 (12), p.e253985 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2022-253985 ;PMID: 38129091

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7
Anaesthesia of a parturient with uncorrected pentalogy of Fallot undergoing caesarean section and postpartum sterilisation
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Article
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Anaesthesia of a parturient with uncorrected pentalogy of Fallot undergoing caesarean section and postpartum sterilisation

BMJ case reports, 2023-10, Vol.16 (10), p.e251598 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2022-251598 ;PMID: 37802594

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8
Retinal abnormalities in a patient with cutis marmorata telangiectatica congenita
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Article
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Retinal abnormalities in a patient with cutis marmorata telangiectatica congenita

BMJ case reports, 2024-05, Vol.17 (5), p.e257810 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-257810 ;PMID: 38719246

Digital Resources/Online E-Resources

9
Congenital glottic stenosis as a clinical manifestation of FREM1 -associated disorders in a neonate with respiratory distress and aphonia
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Article
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Congenital glottic stenosis as a clinical manifestation of FREM1 -associated disorders in a neonate with respiratory distress and aphonia

BMJ case reports, 2024-05, Vol.17 (5), p.e257133 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-257133 ;PMID: 38719265

Digital Resources/Online E-Resources

10
Surgical management of congenital malrotation presenting in adulthood
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Article
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Surgical management of congenital malrotation presenting in adulthood

BMJ case reports, 2023-09, Vol.16 (9), p.e253848 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2022-253848 ;PMID: 37666569

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11
Varicella mimicking complications of acute rhinosinusitis in an infant
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Article
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Varicella mimicking complications of acute rhinosinusitis in an infant

BMJ case reports, 2024-04, Vol.17 (4), p.e246379 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2021-246379 ;PMID: 38684354

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12
Stylohyoid fracture resulting in facial paralysis
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Article
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Stylohyoid fracture resulting in facial paralysis

BMJ case reports, 2023-07, Vol.16 (7), p.e254938 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-254938 ;PMID: 37479491

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13
Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation
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Article
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Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation

BMJ case reports, 2024-02, Vol.17 (2), p.e257505 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-257505 ;PMID: 38413141

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14
Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant
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Article
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Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant

BMJ case reports, 2024-02, Vol.17 (2), p.e257746 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-257746 ;PMID: 38383127

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15
Cutis verticis gyrata associated with congenital heart disease
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Article
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Cutis verticis gyrata associated with congenital heart disease

BMJ case reports, 2024-02, Vol.17 (2), p.e256735 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-256735 ;PMID: 38359953

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16
Primary congenital hypothyroidism: challenges in a low-income country without paediatric endocrinologist and universal newborn screening
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Article
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Primary congenital hypothyroidism: challenges in a low-income country without paediatric endocrinologist and universal newborn screening

BMJ case reports, 2023-05, Vol.16 (5), p.e249997 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2022-249997 ;PMID: 37137550

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17
Vaginal bleeding in a newborn as initial presentation of uterus didelphys
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Article
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Vaginal bleeding in a newborn as initial presentation of uterus didelphys

BMJ case reports, 2023-02, Vol.16 (2), p.e251017 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2022-251017 ;PMID: 36750302

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18
Parkes Weber syndrome: a rare cause of foot drop
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Article
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Parkes Weber syndrome: a rare cause of foot drop

BMJ case reports, 2023-10, Vol.16 (10), p.e254455 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2022-254455 ;PMID: 37793841

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19
Polymicrogyria in a patient after twin-twin transfusion syndrome
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Article
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Polymicrogyria in a patient after twin-twin transfusion syndrome

BMJ case reports, 2023-09, Vol.16 (9), p.e255510 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-255510 ;PMID: 37739446

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20
Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension
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Article
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Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension

BMJ case reports, 2023-09, Vol.16 (9), p.e255502 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-255502 ;PMID: 37739444

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