Search details
1.
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Clin Genet
; 100(4): 468-477, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34212383
2.
Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.
J Genet Couns
; 29(5): 692-714, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32602153
3.
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
Am J Med Genet A
; 179(11): 2272-2276, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31436901
4.
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Am J Hum Genet
; 97(3): 457-64, 2015 Sep 03.
Article
in English
| MEDLINE | ID: mdl-26299366
5.
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.
Ann Clin Transl Neurol
; 6(1): 154-160, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30656193
6.
A porcine model of neurofibromatosis type 1 that mimics the human disease.
JCI Insight
; 3(12)2018 06 21.
Article
in English
| MEDLINE | ID: mdl-29925695
7.
Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.
J Clin Res Pediatr Endocrinol
; 9(1): 70-73, 2017 Mar 01.
Article
in English
| MEDLINE | ID: mdl-27796263
Results
1 -
7
de 7
1
Next >
>>