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1.
High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.
Pediatr Res
; 2024 May 11.
Article
in English
| MEDLINE | ID: mdl-38734812
2.
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Genet Med
; 25(4): 100003, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36549593
3.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31495489
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