Detalhe da pesquisa
1.
Cleft Lip With Ankyloblepharon Filiforme Adnatum: A Case Report.
Cleft Palate Craniofac J
; 61(1): 155-158, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36377243
2.
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.
Genet Med
; 25(10): 100918, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37330696
3.
Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing.
Am J Med Genet A
; 191(1): 205-219, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317839
4.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Am J Med Genet A
; 191(5): 1227-1239, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751037
5.
The relation between clinically diagnosed and parent-reported feeding difficulties in children with and without clefts.
Eur J Pediatr
; 182(5): 2197-2204, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36862223
6.
Prenatal diagnosis of cleft lip and/or palate: What do we tell prospective parents?
Prenat Diagn
; 43(10): 1310-1319, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37552068
7.
Treatment and Management of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome With Scleral Prosthetic Devices.
Eye Contact Lens
; 49(6): 262-265, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37053073
8.
Speech Outcomes and Velopharyngeal Function in Children Undergoing Submucous Cleft Palate Repair.
J Craniofac Surg
; 34(6): 1766-1771, 2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37526200
9.
Adult Cleft Patients: An Exploration of Functional Needs and Treatment Barriers.
J Craniofac Surg
; 34(1): 332-336, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-35984002
10.
Pregnancy with Facial Cleft: 20 Years of Experience at a Single Center.
Isr Med Assoc J
; 25(10): 678-682, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37846996
11.
Submucous Cleft Palate (SMCP): Indications and Outcomes of Radical Muscle Dissection Palatoplasty in Children Under 4 Years of Age.
Cleft Palate Craniofac J
; 60(8): 980-985, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35306868
12.
Speech Telepractice and Treatment Intensity in a Cantonese-Speaking Case with 22q11.2 Deletion Syndrome Following Late Diagnosis and Management of Velopharyngeal Dysfunction.
Cleft Palate Craniofac J
; 60(11): 1505-1512, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678611
13.
[Cleft lip and palate : One of the most frequent congenital malformations]. / Lippen-Kiefer-Gaumen-Spalte : Eine der häufigsten angeborenen Fehlbildungen.
HNO
; 71(4): 276-284, 2023 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-36897341
14.
Analysis and pharmacological modulation of senescence in human epithelial stem cells.
J Cell Mol Med
; 26(14): 3977-3994, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35706382
15.
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype.
Am J Med Genet A
; 188(8): 2448-2453, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451546
16.
MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.
Am J Med Genet A
; 188(7): 2231-2236, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35385210
17.
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.
Am J Med Genet A
; 188(5): 1578-1582, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35084080
18.
Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome.
Am J Med Genet A
; 188(6): 1881-1884, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224863
19.
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.
Am J Med Genet A
; 188(10): 3110-3117, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35943032
20.
Robin sequence without cleft palate: Genetic diagnoses and management implications.
Am J Med Genet A
; 188(1): 160-177, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34569146