E-LIB Suche - Ergebnisse für: Duker, Angela L

1

Author Correction: Specific heterozygous variants in MGP le..:

Gourgas, Ophélie ; Lemire, Gabrielle ; Eaton, Alison J....
Nature Communications. 15 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

2

P814: Cases of survivorship: Prenatal counseling for double..:

Schelhaas, Andrea ; Duker, Angela ; Schwartz, Valerie.
Genetics in Medicine Open. 2 (2024) - p. 101722 , 2024

Link: https://doi.org/10.1016/..

3

Dominant missense variants in SREBF2 are associated with co..:

Moulton, Matthew J. ; Atala, Kristhen ; Zheng, Yiming...
Genetics in Medicine. 26 (2024) 9 - p. 101174 , 2024

Link: https://doi.org/10.1016/..

4

Specific heterozygous variants in MGP lead to endoplasmic r..:

Gourgas, Ophélie ; Lemire, Gabrielle ; Eaton, Alison J....
Nature Communications. 14 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

5

Identification of potential non-invasive biomarkers in dias..:

Paganini, Chiara ; Carroll, Ricki S. ; Gramegna Tota, Chiara...
Bone. 175 (2023) - p. 116838 , 2023

Link: https://doi.org/10.1016/..

6

Immune Deficiency in Microcephalic Osteodysplastic Primordi..:

Sirohi, Neha ; Duker, Angela L. ; Bober, Michael B..
Journal of Clinical Immunology. 43 (2023) 5 - p. 895-897 , 2023

Link: https://doi.org/10.1007/..

7

RAB1A haploinsufficiency phenocopies the 2p14–p15 microdele..:

Rios, Jonathan J. ; Li, Yang ; Paria, Nandina...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2103-2111 , 2023

Link: https://doi.org/10.1016/..

8

Trends in Serum Cytokine Expression in Pediatric Skeletal D..:

O'Connell, David A. ; Carroll, Ricki S. ; Duker, Angela L....
JBMR Plus. 7 (2023) 12 - p. , 2023

Link: https://doi.org/10.1002/..

9

eP467: Prenatal genetic testing can lead to (almost) self-f..:

Schelhaas, Andrea ; Duker, Angela ; Carroll, Ricki
Genetics in Medicine. 24 (2022) 3 - p. S297 , 2022

Link: https://doi.org/10.1016/..

10

Collagen X Marker Levels are Decreased in Individuals with ..:

Carroll, Ricki S. ; Olney, Robert C. ; Duker, Angela L....
Calcified Tissue International. 111 (2022) 1 - p. 66-72 , 2022

Link: https://doi.org/10.1007/..

11

Microcephalic osteodysplastic primordial dwarfism type II i..:

Duker, Angela L. ; Kinderman, Dagmar ; Jordan, Christy...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

12

Growth in individuals withSaul–Wilsonsyndrome:

Ferreira, Carlos R. ; Niiler, Timothy ; Duker, Angela L...
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2110-2116 , 2020

Link: https://doi.org/10.1002/..

13

Should We Stop Calling Thanatophoric Dysplasia a Lethal Con..:

Carroll, Ricki S. ; Duker, Angela L. ; Schelhaas, Andrea J....
Palliative Medicine Reports. 1 (2020) 1 - p. 32-39 , 2020

Link: https://doi.org/10.1089/..

14

Defining the clinical phenotype of Saul–Wilson syndrome:

Ferreira, Carlos R. ; Zein, Wadih M. ; Huryn, Laryssa A....
Genetics in Medicine. 22 (2020) 5 - p. 857-866 , 2020

Link: https://doi.org/10.1038/..

15

Novel XRCC4 Mutations in an Infant With Microcephalic Primo..:

Fredette, Meghan E. ; Lombardi, Kristin C. ; Duker, Angela L....
AACE Clinical Case Reports. 6 (2020) 1 - p. e1-e4 , 2020

Link: https://doi.org/10.4158/..