E-LIB Suche - Ergebnisse für: Blaser, Susan

1

Homozygous EPRS1 missense variant causing hypomyelinating l..:

Khan, Debjit ; Ramachandiran, Iyappan ; Vasu, Kommireddy...
Nature Communications. 15 (2024) 1 - p. , 2024

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

2

P272: Novel biallelic missense variants in C2orf69 cause co..:

Oh, Youjin ; Yoon, Grace ; Maier, Michael...
Genetics in Medicine Open. 2 (2024) - p. 101168 , 2024

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

3

Associations and outcomes of prenatally detected rhombencep..:

Kunpalin, Yada ; Miller, Elka ; Raghuram, Kamini...
Prenatal Diagnosis. , 2024

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

4

Simple prenatal imaging predictors for postnatal cerebrospi..:

Kunpalin, Yada ; Sichitiu, Joanna ; Krishnan, Pradeep...
Prenatal Diagnosis. 43 (2023) 13 - p. 1605-1613 , 2023

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

5

Anterior extension of the choroid plexus into the frontal h..:

Ashwal, Eran ; Blaser, Susan ; Leckie, Ashley...
Prenatal Diagnosis. 43 (2023) 6 - p. 756-762 , 2023

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

6

An unusually mild case of biotin-thiamine-responsive basal ..:

Lail, Gurnoor ; Blaser, Susan ; Inbar-Feigenberg, Michal
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101004 , 2023

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

7

Fetal macrocephaly: Pathophysiology, prenatal diagnosis and..:

Shinar, Shiri ; Chitayat, David ; Shannon, Patrick.
Prenatal Diagnosis. 43 (2023) 13 - p. 1650-1661 , 2023

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

8

Biallelic variants in TUBGCP6 result in microcephaly and ch..:

Thomas‐Wilson, Amanda ; Schacht, John P. ; Chitayat, David...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1935-1941 , 2023

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

9

Genome sequencing for detection of pathogenic deep intronic..:

Walker, Susan ; Lamoureux, Sylvia ; Khan, Tayyaba...
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 3129-3135 , 2021

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

10

NeurodegenerativeVPS41variants inhibit HOPS function and mT..:

van der Welle, Reini E N ; Jobling, Rebekah ; Burns, Christian...
EMBO Molecular Medicine. 13 (2021) 5 - p. , 2021

Link: https://doi.org/10.15252..

11

New cases that expand the genotypic and phenotypic spectrum..:

Szot, Justin O. ; Slavotinek, Anne ; Chong, Karen...
Human Mutation. 42 (2021) 7 - p. 862-876 , 2021

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

12

Brain and Placental Pathology in Fetal COL4A1 Related Disea..:

Shannon, Patrick ; Hum, Courtney ; Parks, Tony...
Pediatric and Developmental Pathology. 24 (2021) 3 - p. 175-186 , 2021

Link: https://doi.org/10.1177/..

13

Maternal SLE and brachytelephalangic chondrodysplasia punct..:

Alkhunaizi, Ebba ; Unger, Sharon ; Shannon, Patrick...
American Journal of Medical Genetics Part A. 182 (2020) 7 - p. 1807-1811 , 2020

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

14

Genome sequencing identifies a rare case of moderate Zellwe..:

Lee, Whiwon ; Costain, Gregory ; Blaser, Susan...
Molecular Genetics and Metabolism Reports. 25 (2020) - p. 100664 , 2020

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

15

Locating Cytosine Conical Intersections by Laser Experiment..:

Trachsel, Maria A. ; Blaser, Susan ; Lobsiger, Simon...
The Journal of Physical Chemistry Letters. 11 (2020) 9 - p. 3203-3210 , 2020

Link: https://doi.org/10.1021/..