Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
2.
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.
Osteoporos Int
; 35(3): 439-449, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982856
3.
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Osteoporos Int
; 35(3): 431-438, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982857
4.
Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.
Osteoporos Int
; 35(1): 1-10, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982855
5.
The Medical Writing Center Model in an Academic Teaching Hospital.
J Clin Psychol Med Settings
; 2024 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38762704
6.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Genet Med
; 25(5): 100020, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718845
7.
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.
Am J Med Genet A
; 191(1): 259-264, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36301021
8.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
9.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Am J Hum Genet
; 105(3): 631-639, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353024
10.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38749428
11.
Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.
Mol Genet Metab
; 133(1): 113-121, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33814268
12.
Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.
Am J Med Genet A
; 185(5): 1515-1518, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559401
13.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 182(5): 962-973, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32031333
14.
Proceedings of the 2019 Santa Fe Bone Symposium: New Concepts in the Care of Osteoporosis and Rare Bone Diseases.
J Clin Densitom
; 23(1): 1-20, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31685420
15.
Mobility in osteogenesis imperfecta: a multicenter North American study.
Genet Med
; 21(10): 2311-2318, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30918359
16.
Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Osteoporos Int
; 35(5): 933-934, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498158
17.
A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.
Clin Genet
; 94(6): 502-511, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30152014
18.
Mid-term Results of Femoral and Tibial Osteotomies and Fassier-Duval Nailing in Children With Osteogenesis Imperfecta.
J Pediatr Orthop
; 38(6): 331-336, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27379783
19.
Initial Experience With Percutaneous IM Rodding of the Humeri in Children With Osteogenesis Imperfecta.
J Pediatr Orthop
; 38(9): 484-489, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27662385
20.
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
Mol Genet Metab
; 122(1-2): 4-17, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888853