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1.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Brain
; 145(3): 909-924, 2022 04 29.
Article
in English
| MEDLINE | ID: mdl-34605855
2.
Clinical Manifestations of Noonan Syndrome and Related Disorders.
Pediatr Endocrinol Rev
; 16(Suppl 2): 428-434, 2019 May.
Article
in English
| MEDLINE | ID: mdl-31115194
3.
50 Years Ago in TheJournalofPediatrics: Phenylketonuria over the Years: A Story of Treatable Intellectual Disability.
J Pediatr
; 228: 189, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33342489
4.
Redeployment: Tales of a pediatric geneticist in a COVID-19 combat zone.
Am J Med Genet A
; 182(9): 2008-2009, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32666585
5.
Severe central sleep apnea in a child with biallelic variants in NALCN.
J Clin Sleep Med
; 18(10): 2507-2513, 2022 10 01.
Article
in English
| MEDLINE | ID: mdl-35808948
6.
Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency.
Mol Genet Metab Rep
; 28: 100780, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34285875
7.
Established and Emerging Treatments for Patients with Inborn Errors of Metabolism.
Neoreviews
; 21(10): e699-e707, 2020 10.
Article
in English
| MEDLINE | ID: mdl-33004565
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