Detalhe da pesquisa
1.
Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Nature
; 568(7752): E6, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30944482
2.
Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Nature
; 558(7711): 540-546, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899452
3.
Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.
Prenat Diagn
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38635411
4.
Biallelic truncating variants in VGLL2 cause syngnathia in humans.
J Med Genet
; 60(11): 1084-1091, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37666660
5.
An automatic facial landmarking for children with rare diseases.
Am J Med Genet A
; 191(5): 1210-1221, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36714960
6.
Imaging Factors Affecting Prenatal Counseling in Orofacial Clefts.
Fetal Diagn Ther
; 50(2): 70-83, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36854283
7.
The First Hybrid International Educational Comprehensive Cleft Care Workshop.
Cleft Palate Craniofac J
; 60(10): 1189-1198, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35532040
8.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445792
9.
Incidence of New-Onset Obstructive Sleep Apnea After Posterior Flap Pharyngoplasty in Children.
Ann Plast Surg
; 89(2): 180-184, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34670983
10.
Parental and Child Diagnosis Storytelling and Self-Image in French Children With Cleft lip With or Without Cleft Palate.
Cleft Palate Craniofac J
; : 10556656221126268, 2022 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112838
11.
Sleep-disordered breathing in children with pycnodysostosis.
Am J Med Genet A
; 182(1): 122-129, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680459
12.
Cherubism as a systemic skeletal disease: evidence from an aggressive case.
BMC Musculoskelet Disord
; 21(1): 564, 2020 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32825821
13.
Pediatric Nasal Reconstruction by Washio Procedure.
Facial Plast Surg
; 35(3): 286-293, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31100767
14.
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.
Am J Hum Genet
; 96(4): 519-31, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25772936
15.
Prenatal Diagnosis of a Melanotic Neuroectodermal Tumor of Infancy (MNTI): A Case Report With a Favorable Outcome After Chemotherapy Failure and Incomplete Resection.
J Pediatr Hematol Oncol
; 40(4): 320-324, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29016414
16.
Congenital fibroblastic connective tissue nevi: Unusual and misleading presentations in three infantile cases.
Pediatr Dermatol
; 35(5): 644-650, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30024070
17.
Rhabdomyosarcoma and rhabdomyoma associated with nevoid basal cell carcinoma syndrome: Local treatment strategy.
Pediatr Dermatol
; 35(4): e245-e247, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29799139
18.
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.
J Med Genet
; 53(11): 752-760, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27358179
19.
Congenital Infantile Fibrosarcoma Associated With a Lipofibromatosis-Like Component: One Train May Be Hiding Another.
Am J Dermatopathol
; 39(6): 463-467, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28525423
20.
Varying proliferative and clonogenic potential in NRAS-mutated congenital melanocytic nevi according to size.
Exp Dermatol
; 25(10): 789-96, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27193390