Search details
1.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
; 24(3): 631-644, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34906488
2.
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Hum Mol Genet
; 28(4): 525-538, 2019 02 15.
Article
in English
| MEDLINE | ID: mdl-30304524
3.
Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.
J Clin Immunol
; 40(2): 321-328, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31903518
4.
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Mol Genet Metab
; 126(4): 475-488, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30691927
5.
Glycogen storage disease type 1a in the Ohio Amish.
JIMD Rep
; 63(5): 453-461, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-36101819
6.
Vaccination patterns of the northeast Ohio Amish revisited.
Vaccine
; 39(7): 1058-1063, 2021 02 12.
Article
in English
| MEDLINE | ID: mdl-33478791
7.
Underimmunization in Ohio's Amish: parental fears are a greater obstacle than access to care.
Pediatrics
; 128(1): 79-85, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21708796
Results
1 -
7
de 7
1
Next >
>>