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1.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-38815585
2.
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.
Am J Med Genet A
; : e63709, 2024 May 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38801192
3.
A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder.
Am J Med Genet A
; 191(4): 1070-1076, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36574749
4.
Delayed diagnosis and racial bias in children with genetic conditions.
Am J Med Genet A
; 188(4): 1118-1123, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35037400
5.
Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.
Am J Med Genet A
; 185(2): 528-533, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33179441
6.
Craving Answers.
N Engl J Med
; 386(9): 880-886, 2022 Mar 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35235730
7.
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Am J Med Genet A
; 182(3): 513-520, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31880405
8.
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(5): 100803, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36920474
9.
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(5): 100804, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36971772
10.
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes.
Am J Med Genet A
; 176(12): 2877-2881, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30380203
11.
Cobalamin D Deficiency Identified Through Newborn Screening.
JIMD Rep
; 44: 73-77, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30097992
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