Detalhe da pesquisa
1.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32730804
2.
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
Am J Hum Genet
; 104(1): 179-185, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595371
3.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473207
4.
Medical Decision Support to Reduce Unwarranted Methylene Tetrahydrofolate Reductase (MTHFR) Genetic Testing.
J Med Syst
; 44(9): 152, 2020 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32737598
5.
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Am J Med Genet A
; 170(10): 2652-61, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27240702
6.
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect.
Mol Genet Metab Rep
; 38: 101050, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469087
7.
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience.
Mol Genet Metab Rep
; 37: 101002, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37671074
8.
HSD10 disease in a female: A case report and review of literature.
JIMD Rep
; 62(1): 35-43, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34765396
9.
Angiotensin II-accelerated atherosclerosis and aneurysm formation is attenuated in osteopontin-deficient mice.
J Clin Invest
; 112(9): 1318-31, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14597759
10.
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
Eur J Med Genet
; 55(1): 59-62, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22085995
11.
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
Eur J Med Genet
; 55(5): 354-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22659271
12.
Clinical review of genetic epileptic encephalopathies.
Eur J Med Genet
; 55(5): 281-98, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22342633
13.
Synthetic LXR ligand inhibits the development of atherosclerosis in mice.
Proc Natl Acad Sci U S A
; 99(11): 7604-9, 2002 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-12032330