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1.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Am J Hum Genet
; 2024 Jun 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38843839
2.
Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females.
Mol Genet Metab
; 141(3): 108152, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38367583
3.
Palynziq clinic: One year and 43 patients later.
Mol Genet Metab
; 133(3): 250-256, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34074593
4.
Perceived barriers to paternal expanded carrier screening following a positive maternal result: To screen or not to screen.
J Genet Couns
; 30(2): 470-477, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33010192
5.
The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.
Am J Med Genet A
; 179(2): 300-305, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30549396
6.
Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy.
Pediatr Dermatol
; 35(4): e218-e220, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29633331
7.
Cancer Genetic Counselors' Current Practices and Attitudes Related to the Use of Tumor Profiling.
J Genet Couns
; 26(4): 878-886, 2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-28091859
8.
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.
Am J Med Genet A
; 170A(4): 881-90, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26804200
9.
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome?
Am J Med Genet A
; 167A(4): 683-7, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25708102
10.
Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: results from long-term open-label study.
Obesity (Silver Spring)
; 32(2): 252-261, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37919617
11.
Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health.
J Community Genet
; 14(6): 627-638, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37798460
12.
Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial.
J Clin Endocrinol Metab
; 108(7): 1676-1685, 2023 06 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-36639249
13.
Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic.
J Community Genet
; 13(4): 449-458, 2022 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-35794442
14.
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data.
Mol Genet Metab Rep
; 33: 100918, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36176956
15.
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics.
Mol Genet Metab Rep
; 28: 100790, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34430209
16.
Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency.
JIMD Rep
; 45: 83-87, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30406504
17.
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.
Mol Cytogenet
; 11: 23, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29599822
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