Search details
1.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 24(10): 2051-2064, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35833929
2.
HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.
Clin Genet
; 101(1): 142-143, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34532855
3.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
; 23(7): 1202-1210, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33674768
4.
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
Clin Genet
; 99(2): 303-308, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33131077
5.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Clin Genet
; 97(3): 396-406, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31794058
6.
Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.
Am J Med Genet A
; 182(12): 2994-2998, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32975022
7.
A review of filamin A mutations and associated interstitial lung disease.
Eur J Pediatr
; 178(2): 121-129, 2019 Feb.
Article
in English
| MEDLINE | ID: mdl-30547349
8.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 25(11): 100962, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37658852
9.
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.
Eur J Hum Genet
; 31(12): 1430-1439, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37673932
10.
National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.
Eur J Hum Genet
; 28(12): 1669-1674, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32483343
11.
Novel clinical and genetic insight into CXorf56-associated intellectual disability.
Eur J Hum Genet
; 28(3): 367-372, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31822863
12.
Type VI syndactyly with skeletal dysplasia: a new syndrome?
Clin Dysmorphol
; 28(1): 30-34, 2019 Jan.
Article
in English
| MEDLINE | ID: mdl-30138139
Results
1 -
12
de 12
1
Next >
>>