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1.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Article
in English
| MEDLINE | ID: mdl-34382076
2.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Am J Hum Genet
; 104(6): 1060-1072, 2019 06 06.
Article
in English
| MEDLINE | ID: mdl-31104773
3.
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
Hum Mol Genet
; 26(21): 4095-4104, 2017 11 01.
Article
in English
| MEDLINE | ID: mdl-28985353
4.
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.
Am J Med Genet A
; 152A(1): 169-74, 2010 Jan.
Article
in English
| MEDLINE | ID: mdl-20014132
5.
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
J Clin Endocrinol Metab
; 103(3): 1005-1014, 2018 03 01.
Article
in English
| MEDLINE | ID: mdl-29267953
6.
The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.
Front Endocrinol (Lausanne)
; 8: 107, 2017.
Article
in English
| MEDLINE | ID: mdl-28579975
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