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1 . Academic Journal
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
저자
by
Ali AlMail
;
Ahmed Jamjoom
;
Amy Pan
;
Min Yi Feng
;
Vann Chau
, et al.
소스
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-8 (2024)
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7 . Academic Journal
P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines
저자
by
Ali AlMail
;
Ahmed Jamjoom
;
Amy Pan
;
Anna Feng
;
Vann Chau
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101145- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing
저자
by
Lucie Dupuis
;
Anna Szuto
;
Christian Marshall
;
Lianna Kyriakopoulou
;
Roberto Mendoza-Londono
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101282- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
저자
by
Joseph T. Shieh
;
Jesus A. Tintos-Hernandez
;
Chaya N. Murali
;
Monica Penon-Portmann
;
Marco Flores-Mendez
, et al.
소스
HGG Advances, Vol 4, Iss 4, Pp 100236- (2023)
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7 . Academic Journal
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome
저자
by
Mary E. McQuaid
;
Kashif Ahmed
;
Stephanie Tran
;
Justine Rousseau
;
Ranad Shaheen
, et al.
소스
JCI Insight, Vol 7, Iss 10 (2022)
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7 . Academic Journal
A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
저자
by
Alyssa C. M. Joynt
;
Ashish R. Deshwar
;
Jessica Zon
;
Lucie Dupuis
;
Diane K. Wherrett
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
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7 . Academic Journal
Phagocytosis of Erythrocytes from Gaucher Patients Induces Phenotypic Modifications in Macrophages, Driving Them toward Gaucher Cells
저자
by
Lucie Dupuis
;
Margaux Chauvet
;
Emmanuelle Bourdelier
;
Michaël Dussiot
;
Nadia Belmatoug
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 14, p 7640 (2022)
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7 .
Heterozygous Nonsense Variants in the Ferritin Heavy Chain GeneFTH1Cause a Novel Pediatric Neuroferritinopathy
저자
by
Joseph T Shieh
;
Jesus A Tintos-Hernández
;
Chaya N. Murali
;
Monica Penon-Portmann
;
Marco Flores-Mendez
, et al.
소스
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7 .
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
저자
by
Elizabeth E. Palmer
;
Michael Pusch
;
Alessandra Picollo
;
Caitlin Forwood
;
Matthew H. Nguyen
, et al.
소스
Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE
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7 .
Monoallelic Loss of Function BMP2 Variants Result in BMP2-Related Skeletal Dysplasia Spectrum
저자
by
Jessica R.C. Priestley
;
Ashish R. Deshwar
;
Harsha Murthy
;
Maria Daniela D’Agostino
;
Lucie Dupuis
, et al.
소스
Genetics in Medicine
. :100863
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