E-LIB Suche - Ergebnisse für: Stephen, Joshi

1

cDNA sequencing increases the molecular diagnostic yield in..:

Kuptanon, Chulaluk ; Morimoto, Marie ; Nicoli, Elena-Raluca...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

2

Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associ..:

Somashekar, Puneeth H. ; Kaur, Parneet ; Stephen, Joshi...
Clinical Genetics. 99 (2021) 4 - p. 594-600 , 2021

Link: https://doi.org/10.1111/..

3

Diagnosis of Chediak Higashi disease in a 67‐year old woman:

Yarnell, David S. ; Roney, Joseph C. ; Teixeira, Cláudia...
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 3007-3013 , 2020

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

4

Deficiency in the endocytic adaptor proteins PHETA1/2 impai..:

Ates, Kristin M. ; Wang, Tong ; Moreland, Trevor...
Disease Models & Mechanisms. , 2020

Link: https://doi.org/10.1242/..

5

Hermansky-Pudlak syndrome and oculocutaneous albinism in Ch..:

Power, Bradley ; Ferreira, Carlos R. ; Chen, Dong...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

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

6

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD..:

Stephen, Joshi ; Nampoothiri, Sheela ; Vinayan, K. P....
BMC Medical Genetics. 19 (2018) 1 - p. , 2018

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

7

Loss of function mutations in VARS encoding cytoplasmic val..:

Stephen, Joshi ; Nampoothiri, Sheela ; Banerjee, Aditi...
Human Genetics. 137 (2018) 4 - p. 293-303 , 2018

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

8

Novel truncating mutation in TENM3 in siblings with motor d..:

Stephen, Joshi ; Nampoothiri, Sheela ; Kuppa, Srikar...
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2930-2933 , 2018

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

9

Deleterious variants in TRAK1 disrupt mitochondrial movemen..:

Barel, Ortal ; Malicdan, May Christine V ; Ben-Zeev, Bruria...
Brain. 140 (2017) 3 - p. 568-581 , 2017

Link: https://doi.org/10.1093/..

10

CELSR2, encoding a planar cell polarity protein, is a putat..:

Vilboux, Thierry ; Malicdan, May Christine V. ; Roney, Joseph C....
American Journal of Medical Genetics Part A. 173 (2017) 3 - p. 661-666 , 2017

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

11

Mutations in KIAA0753 cause Joubert syndrome associated wit..:

NISC Comparative Sequencing Program ; Stephen, Joshi ; Vilboux, Thierry...
Human Genetics. 136 (2017) 4 - p. 399-408 , 2017

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

12

Identification of an Alu element‐mediated deletion in the p..:

Garland, Jennifer ; Stephen, Joshi ; Class, Bradley...
Molecular Genetics & Genomic Medicine. 5 (2017) 4 - p. 410-417 , 2017

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

13

Cellular and molecular defects in a patient with Hermansky-..:

Stephen, Joshi ; Yokoyama, Tadafumi ; Tolman, Nathanial J....
PLOS ONE. 12 (2017) 3 - p. e0173682 , 2017

Link: https://doi.org/10.1371/..

14

Unusual skin manifestations in a patient with menkes diseas:

Gupta, Divya ; Rao, Raghavendra ; Girisha, Katta M...
American Journal of Medical Genetics Part A. 170 (2016) 11 - p. 3039-3040 , 2016

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

15

104: Prenatal whole exome sequencing identifies genetic cau..:

Al-kouatly, Huda B. ; Vilboux, Thierry ; Fries, Melissa H....
American Journal of Obstetrics and Gynecology. 214 (2016) 1 - p. S71-S72 , 2016

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