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1
Neutral lipid storage disease with ichthyosis and fatty liver
Neutral lipid storage disease with ichthyosis and fatty liver
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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
Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)
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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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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3
Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition
Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition
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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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4
Hydrometrocolpos: antenatal diagnosis and postnatal management
Hydrometrocolpos: antenatal diagnosis and postnatal management
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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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5
Anaesthesia of a parturient with uncorrected pentalogy of Fallot undergoing caesarean section and postpartum sterilisation
Anaesthesia of a parturient with uncorrected pentalogy of Fallot undergoing caesarean section and postpartum sterilisation
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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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6
Retinal abnormalities in a patient with cutis marmorata telangiectatica congenita
Retinal abnormalities in a patient with cutis marmorata telangiectatica congenita
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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

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7
Congenital glottic stenosis as a clinical manifestation of FREM1 -associated disorders in a neonate with respiratory distress and aphonia
Congenital glottic stenosis as a clinical manifestation of FREM1 -associated disorders in a neonate with respiratory distress and aphonia
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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

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8
Surgical management of congenital malrotation presenting in adulthood
Surgical management of congenital malrotation presenting in adulthood
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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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9
Varicella mimicking complications of acute rhinosinusitis in an infant
Varicella mimicking complications of acute rhinosinusitis in an infant
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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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10
Stylohyoid fracture resulting in facial paralysis
Stylohyoid fracture resulting in facial paralysis
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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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11
Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation
Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation
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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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12
Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant
Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant
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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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13
Cutis verticis gyrata associated with congenital heart disease
Cutis verticis gyrata associated with congenital heart disease
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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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14
Primary congenital hypothyroidism: challenges in a low-income country without paediatric endocrinologist and universal newborn screening
Primary congenital hypothyroidism: challenges in a low-income country without paediatric endocrinologist and universal newborn screening
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Article 		Add to My Research

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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15
Vaginal bleeding in a newborn as initial presentation of uterus didelphys
Vaginal bleeding in a newborn as initial presentation of uterus didelphys
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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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16
Parkes Weber syndrome: a rare cause of foot drop
Parkes Weber syndrome: a rare cause of foot drop
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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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17
Polymicrogyria in a patient after twin-twin transfusion syndrome
Polymicrogyria in a patient after twin-twin transfusion syndrome
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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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18
Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension
Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension
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Article 		Add to My Research

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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19
Unilateral Toxoplasma retinochoroiditis with frosted branch angiitis: a multimodal imaging study
Unilateral Toxoplasma retinochoroiditis with frosted branch angiitis: a multimodal imaging study
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Unilateral Toxoplasma retinochoroiditis with frosted branch angiitis: a multimodal imaging study

BMJ case reports, 2024-05, Vol.17 (5), p.e253286 [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-2022-253286 ;PMID: 38740445

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20
Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation
Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation
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Article 		Add to My Research

Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation

BMJ case reports, 2023-09, Vol.16 (9), p.e256358 [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-2023-256358 ;PMID: 37699739

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