Detalhe da pesquisa
1.
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
Am J Hum Genet
; 104(4): 731-737, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905400
2.
Genetics, Clinical Presentation, Radiological Features, and Midterm Outcome of Closing Wedge Osteotomy in Children With Brachydactyly Type C.
Ann Plast Surg
; 89(1): 42-48, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35502951
3.
One Pedicled Superficial Temporal Artery Hair-bearing Flap to Reconstruct Three Different Anatomical Areas of the Burnt Face: A Personal Technique.
Ann Plast Surg
; 86(2): 159-161, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33346565
4.
Autozygome and high throughput confirmation of disease genes candidacy.
Genet Med
; 21(3): 736-742, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237576
5.
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.
BMC Med Genet
; 20(1): 12, 2019 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635043
6.
Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.
Am J Med Genet A
; 179(2): 266-279, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30569497
7.
Fractures of the Base of the Proximal Phalanx in Children: Remodeling of Malunion in the Radioulnar Plane With a Diaphyseal Axis-Metacarpal Head Angle of 156° to 163°.
Ann Plast Surg
; 82(4): 399-402, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30855367
8.
Flexor Tendon Reconstruction: Active Range of Motion After the First Stage of Silicone Rod Insertion.
Ann Plast Surg
; 82(5): 523-527, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30950875
9.
Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.
BMC Med Genet
; 19(1): 18, 2018 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29378527
10.
Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.
BMC Med Genet
; 19(1): 158, 2018 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30180809
11.
Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).
Am J Med Genet A
; 173(9): 2439-2441, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28631893
12.
Management of Myositis Ossificans of the Hand: A Case Report and a Review of the Literature.
J Hand Surg Am
; 42(7): 576.e1-576.e4, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28385291
13.
Novel copy number variants and major limb reduction malformation: Report of three cases.
Am J Med Genet A
; 170A(5): 1245-50, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26749485
14.
Conventional and Cellular Atypical Lipomas of the Hand and Forearm: A Report of 9 Cases.
J Hand Surg Am
; 41(5): e85-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26857660
15.
Defining the Indications of Pedicled Groin and Abdominal Flaps in Hand Reconstruction in the Current Microsurgery Era.
J Hand Surg Am
; 41(9): 917-27, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27450894
16.
Six Cases of Myofibroma--The Adult Counterpart of Infantile Myofibromatosis: Case Report.
J Hand Surg Am
; 41(2): 251-6, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26718074
17.
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
Am J Med Genet A
; 167(7): 1621-6, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820810
18.
Conservative management of partial extensor tendon lacerations greater than half the width of the tendon in manual workers.
Ann Plast Surg
; 74(4): 408-9, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25749213
19.
External Rotation Osteotomy of the Humerus to Salvage the Failed Latissimus Dorsi Transfer in Children With Erb Birth Palsy and Supple Congruent Shoulders.
Ann Plast Surg
; 75(6): 625-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25180949
20.
Marked resorption of the thumb proximal phalanx following open reduction and K-wire fixation of a phalangeal neck fracture in a child: case report.
J Hand Surg Am
; 40(4): 688-91, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25648780