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0 · The American Journal of Human Genetics
1 · REVIEWS
2 · Dynamic Molecular Combing: Stretching the Whole Human
3 · Differential localization of hamartin and tuberin and increased S6
4 · Clinical and genetic heterogeneity in Desbuquois dysplasia
5 · Cell Press
6 · Celine Slegtenhorst Profiles
7 · Bi
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View the profiles of people named Celine Slegtenhorst. Join Facebook to connect with Celine Slegtenhorst and others you may know. Facebook gives people.EDEM1 levels were at 97% of normal levels (p = 0.9373) in fibroblast cell lines from affected individuals ( Figure 2 C). The comparable levels of EDEM1 in affected and control fibroblast .
It is involved in the endoplasmic reticulum-associ-ated degradation pathway, responsible for the recognition of misfolded proteins that will be targeted and translocated to the cytosol and .Figure 2 . The American Journal of Human Genetics 2021 1081342-1349DOI: (10.1016/j.ajhg.2021.05.010) Copyright © 2021 American Society of Human Genetics Differential accumulation of hamartin and tuberin in separate cellular compartments of giant cells may prevent formation of the hamartin–tuberin complex, resulting in increased S6 . The endoplasmic reticulum-associated degradation (ERAD) pathway recognizes misfolded proteins that will be targeted and translocated to the cytosol and degraded by the .
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Experiments in human fibroblast cell lines, human plasma, and mouse plasma and brain tissue demonstrated decreased trimming of Man 8 GlcNAc 2 isomer B to Man 7 GlcNAc . Desbuquois dysplasia is a rare chondrodysplasia of autosomal recessive inheritance characterized by short stature, joint laxity, facial anomalies, a “Swedish key” .1249 Predic ve func onal assay-based classifi ca on of PMS2 variants in Lynch syndrome Emily Rayner , Yvonne Tiersma , Cris na Fortuno , Sandrine van Hees-Stuivenberg , Mark Drost , . The measurements for cosmids 117F9 and 165A9 (41.2 ± 2.6 kb) are in good agreement with measurements from Eco RI mapping (39 kb; M. van Slegtenhorst, data not .
View the profiles of people named Celine Slegtenhorst. Join Facebook to connect with Celine Slegtenhorst and others you may know. Facebook gives people.EDEM1 levels were at 97% of normal levels (p = 0.9373) in fibroblast cell lines from affected individuals ( Figure 2 C). The comparable levels of EDEM1 in affected and control fibroblast .
It is involved in the endoplasmic reticulum-associ-ated degradation pathway, responsible for the recognition of misfolded proteins that will be targeted and translocated to the cytosol and .Figure 2 . The American Journal of Human Genetics 2021 1081342-1349DOI: (10.1016/j.ajhg.2021.05.010) Copyright © 2021 American Society of Human Genetics Differential accumulation of hamartin and tuberin in separate cellular compartments of giant cells may prevent formation of the hamartin–tuberin complex, resulting in increased S6 . The endoplasmic reticulum-associated degradation (ERAD) pathway recognizes misfolded proteins that will be targeted and translocated to the cytosol and degraded by the .
Experiments in human fibroblast cell lines, human plasma, and mouse plasma and brain tissue demonstrated decreased trimming of Man 8 GlcNAc 2 isomer B to Man 7 GlcNAc . Desbuquois dysplasia is a rare chondrodysplasia of autosomal recessive inheritance characterized by short stature, joint laxity, facial anomalies, a “Swedish key” .
1249 Predic ve func onal assay-based classifi ca on of PMS2 variants in Lynch syndrome Emily Rayner , Yvonne Tiersma , Cris na Fortuno , Sandrine van Hees-Stuivenberg , Mark Drost , .
The measurements for cosmids 117F9 and 165A9 (41.2 ± 2.6 kb) are in good agreement with measurements from Eco RI mapping (39 kb; M. van Slegtenhorst, data not .View the profiles of people named Celine Slegtenhorst. Join Facebook to connect with Celine Slegtenhorst and others you may know. Facebook gives people.EDEM1 levels were at 97% of normal levels (p = 0.9373) in fibroblast cell lines from affected individuals ( Figure 2 C). The comparable levels of EDEM1 in affected and control fibroblast .It is involved in the endoplasmic reticulum-associ-ated degradation pathway, responsible for the recognition of misfolded proteins that will be targeted and translocated to the cytosol and .
Figure 2 . The American Journal of Human Genetics 2021 1081342-1349DOI: (10.1016/j.ajhg.2021.05.010) Copyright © 2021 American Society of Human Genetics Differential accumulation of hamartin and tuberin in separate cellular compartments of giant cells may prevent formation of the hamartin–tuberin complex, resulting in increased S6 . The endoplasmic reticulum-associated degradation (ERAD) pathway recognizes misfolded proteins that will be targeted and translocated to the cytosol and degraded by the .
Experiments in human fibroblast cell lines, human plasma, and mouse plasma and brain tissue demonstrated decreased trimming of Man 8 GlcNAc 2 isomer B to Man 7 GlcNAc . Desbuquois dysplasia is a rare chondrodysplasia of autosomal recessive inheritance characterized by short stature, joint laxity, facial anomalies, a “Swedish key” .
1249 Predic ve func onal assay-based classifi ca on of PMS2 variants in Lynch syndrome Emily Rayner , Yvonne Tiersma , Cris na Fortuno , Sandrine van Hees-Stuivenberg , Mark Drost , .
The American Journal of Human Genetics
REVIEWS
Dynamic Molecular Combing: Stretching the Whole Human
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celine slegtenhorst|Celine Slegtenhorst Profiles
