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1 . Academic Journal
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder
저자
by
Chettle, James
;
Louie, Raymond J.
;
Larner, Olivia
;
Best, Robert
;
Chen, Kevin
, et al.
소스
In
Human Genetics and Genomics Advances
10 October 2024 5(4)
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7 . Academic Journal
Complex genomic rearrangements of the Y chromosome in a premature infant.
저자
by
Balow, Stephanie A.
;
Coyan, Alyxis G.
;
Smith, Nicki
;
Russell, Bianca E.
;
Monteil, Danielle
, et al.
소스
Molecular Cytogenetics (17558166)
. 8/26/2024, Vol. 17 Issue 1, p1-8. 8p.
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
P387: Missense variants in SRCAP: Expansion of phenotypic manifestations associated with non-FHLS SRCAP-related neurodevelopmental disorder
저자
by
Huckestein, Victoria
;
Monteil, Danielle
;
Garner, David
;
Kuperminc, Michelle
;
Jardon-Aites, Michelle
.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
Progressive spasticity and developmental delay in an infant with a CTNNB1 mutation.
저자
by
Freeman, Meagan
;
Fakhori, Nina
;
Monteil, Danielle
.
소스
BMJ Case Reports; Jun2024, Vol. 17 Issue 6, p1-4, 4p
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5 . Academic Journal
Genetic and phenotypic heterogeneity in KIAA0753‐related ciliopathies.
저자
by
Inskeep, Katherine A.
;
Zarate, Yuri A.
;
Monteil, Danielle
;
Spranger, Jurgen
;
Doherty, Dan
, et al.
소스
American Journal of Medical Genetics. Part A; Jan2022, Vol. 188 Issue 1, p104-115, 12p
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7 . Academic Journal
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
저자
by
Murali, Chaya N.
;
Soler-Alfonso, Claudia
;
Loomes, Kathleen M.
;
Shah, Amit A.
;
Monteil, Danielle
, et al.
소스
Molecular Genetics & Metabolism
. Feb2021, Vol. 132 Issue 2, p146-153. 8p.
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7 . Academic Journal
Field template-based design and biological evaluation of new sphingosine kinase 1 inhibitors.
저자
by
Alshaker, Heba
;
Srivats, Shyam
;
Monteil, Danielle
;
Wang, Qi
;
Low, Caroline M. R.
, et al.
소스
Breast Cancer Research & Treatment; Nov2018, Vol. 172 Issue 1, p33-43, 11p
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7 . Academic Journal
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities
저자
by
Snijders Blok, Lot
;
Vino, Arianna
;
den Hoed, Joery
;
Underhill, Hunter R.
;
Monteil, Danielle
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(3):534-542
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7 . Book
Therapeutic Potential of Targeting SK1 in Human Cancers
저자
by
Alshaker, Heba
;
Sauer, Lysann
;
Monteil, Danielle
;
Ottaviani, Silvia
;
Srivats, Shyam
, et al.
소스
Advances in Cancer Research. 2013, v. 117, p143-200.
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7 . Academic Journal
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
저자
by
Weiss, Karin
;
Lazar, Hayley P.
;
Kurolap, Alina
;
Martinez, Ariel F.
;
Paperna, Tamar
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 22(2):389-397
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