Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Gurpreet Singh Kochar"'
Autor:
Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio, Gianvincenzo Zuccotti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia,
Externí odkaz:
https://doaj.org/article/31e8b21d16564a75b2b20ef07336fb0c
Publikováno v:
Indian Journal of Case Reports. :354-356
Nervous system involvement leads to high mortality in juvenile systemic lupus erythematosus. We present the case of a 12-year-old girl who was admitted with a history of recurrence of fever, cervical swellings, seizure, and delirium. Approximately 6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1db522738f6df1c2599fd2cc60a405f6
https://doi.org/10.32677/ijcr.v7i8.2984
https://doi.org/10.32677/ijcr.v7i8.2984
Autor:
Fowzan S. Alkuraya, Elisa Cattaneo, Jayesh Sheth, Giulia Zichichi, Madhulika Kabra, Chiara Mameli, Gurpreet Singh Kochar, Gian Vincenzo Zuccotti, Poonam Dharmaraj, Nasim Mahmood, Marco Burrone, Giuseppe Mercurio, Siham Chafai Elalaoui, Ajit Gandhi, Adnan Mirza
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a0d3589246e66c37ce245a5216baffb
https://doi.org/10.1186/s13023-020-01373-0
https://doi.org/10.1186/s13023-020-01373-0
Autor:
Gurpreet Singh Kochar, Andrew H. Crosby, Anita Choudhary, Ankur Gadodia, Michael A. Simpson, Madhulika Kabra, Neerja Gupta
Publikováno v:
Clinical Dysmorphology. 19:153-156
Departments of Pediatrics, Radiology, All India Institute of Medical Sciences, New Delhi, India and Clinical Developmental Sciences, St George’s University of London, London, UK Correspondence to Madhulika Kabra, MD, Genetic Unit, Department of Ped
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dd57d7ce9a2a6f2e15402e8abb7e56f
https://doi.org/10.1097/mcd.0b013e32833a22c5
https://doi.org/10.1097/mcd.0b013e32833a22c5
Autor:
Suvasini Sharma, Gurpreet Singh Kochar
Publikováno v:
PG Textbook of Pediatrics: Systemic Disorders and Social Pediatrics (Volume 3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0a58cde0e79f1c3c9c4c2c70397eb60
https://doi.org/10.5005/jp/books/12855_36
https://doi.org/10.5005/jp/books/12855_36
Publikováno v:
Journal of child neurology. 29(10)
The study was designed to compare the Full Outline of UnResponsiveness score with Glasgow Coma Scale as a predictor of mortality and poor functional outcome at hospital discharge in children with nontraumatic impairment of consciousness. Seventy chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d52853a1341f97f4c2cd086cda7072a
https://pubmed.ncbi.nlm.nih.gov/24532807
https://pubmed.ncbi.nlm.nih.gov/24532807
Publikováno v:
Indian journal of pediatrics. 77(11)
Coma and other states of impaired consciousness represent a medical emergency. The potential causes are numerous, and the critical window for diagnosis and effective intervention is often short. The common causes of non-traumatic coma include central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ce609f914bd8f89c39da27b51522ef6
https://pubmed.ncbi.nlm.nih.gov/21404016
https://pubmed.ncbi.nlm.nih.gov/21404016