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1.
Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
Clin Genet
; 103(1): 97-102, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36071576
2.
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Genet Med
; 23(9): 1624-1635, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34040189
3.
Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.
J Med Genet
; 56(12): 850-854, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30478137
4.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genet Med
; 20(12): 1663-1676, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29907799
5.
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Am J Hematol
; 93(1): 8-16, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28960434
6.
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Hum Genomics
; 9: 15, 2015 Jul 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-26187847
7.
The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.
Hum Mutat
; 21(6): 655-6, 2003 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-14961559
8.
Compound sarcomeric mutations causing hypertrophic cardiomyopathy in a young Sardinian soccer player: a family affair.
J Sports Med Phys Fitness
; 59(12): 2084-2085, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-31311244
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