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1 . Academic Journal
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
저자
by
Bianca Panis
;
E. Naomi Vos
;
Ivo Barić
;
Annet M. Bosch
;
Martijn C. G. J. Brouwers
, et al.
소스
Frontiers in Genetics, Vol 15 (2024)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Development of tools to facilitate the diagnosis of hereditary fructose intolerance
저자
by
Bianca Panis
;
Lise E. F. Janssen
;
Dirk J. Lefeber
;
Nynke Simons
;
M. Estela Rubio‐Gozalbo
, et al.
소스
JIMD Reports, Vol 64, Iss 5, Pp 353-359 (2023)
Open Access (Wiley)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Germline AGO2 mutations impair RNA interference and human neurological development
저자
by
Davor Lessel
;
Daniela M. Zeitler
;
Margot R. F. Reijnders
;
Andriy Kazantsev
;
Fatemeh Hassani Nia
, et al.
소스
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Open Access (DOAJ)
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7 .
Germline AGO2 mutations impair RNA interference and human neurological development
저자
by
Ee-Shien Tan
;
John Pappas
;
Tiffany Busa
;
Marjolein H. Willemsen
;
Erica H. Gerkes
, et al.
소스
Nature Communications
Nature Communications, 11, 1
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-19572-5⟩
Nature Communications, 11(1):5797. Nature Publishing Group
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-19572-5⟩
Nature Communications, 11
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7 .
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
저자
by
Céline Bonnet
;
Carrie Costin
;
Caitlin E. Lawson
;
Margje Sinnema
;
Merel Klaassens
, et al.
소스
Journal of Medical Genetics, 57, 717-724
Journal of Medical Genetics, 57, 10, pp. 717-724
Journal of Medical Genetics, 57(10), 717-724. BMJ Publishing Group
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7 .
Increased incidence of invasive group A beta hemolytic streptococcal infections in children
저자
by
Bianca Panis
;
Jeannette Dankert-Roelse
;
Hans Wagenvoort
;
Els de Brauwer
.
소스
Journal of Pediatric Infectious Diseases
. :051-054
Web of Science
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6 . Academic Journal
Recurrent Toxic Hepatitis in a Caucasian Girl Related to the Use of Shou-Wu-Pian, a Chinese Herbal Preparation.
저자
by
Bianca Panis
.
소스
Journal of Pediatric Gastroenterology & Nutrition; Aug2005, Vol. 41 Issue 2, p256-258, 3p
Full Text (LWW)
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3 .
Unilateral macrostomia in the newborn: a rare congenital anomaly of the oral commissure
저자
by
Jamiu O. Busari
;
Eva Simonse
;
Bianca Panis
;
RS: SHE - R1 - Research (OvO)
;
Onderwijsontw & Onderwijsresearch
.
소스
BMJ case Reports. BMJ Publishing Group
Open Access (OpenAIRE)
Scopus
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7 .
Posterior reversible encephalopathy syndrome in paediatric leukaemia
저자
by
Bernd Granzen
;
Sylvia Klinkenberg
;
Bianca Panis
;
Gijs Th. J. van Well
;
Jacobiene W. Weber
, et al.
소스
European Journal of Paediatric Neurology, 14(6), 539-545. ELSEVIER SCI LTD
Full Text (ScienceDirect)
Full Text (Clinical Key)
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7 .
Growth in treated classical galactosemia patients
저자
by
M. Estela Rubio-Gozalbo
;
Bianca Panis
;
Willem-Jan M. Gerver
;
Kindergeneeskunde
;
RS: NUTRIM - R3 - Chronic inflammatory disease and wasting
, et al.
소스
European Journal of Pediatrics, 166(5), 443-446. Springer, Cham
Full Text (Springer)
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