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1.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Am J Hum Genet
; 109(10): 1932-1943, 2022 10 06.
Article
in English
| MEDLINE | ID: mdl-36206744
2.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Article
in English
| MEDLINE | ID: mdl-32553196
3.
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Genet Med
; 17(7): 561-8, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25503497
4.
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.
Mol Genet Metab
; 116(1-2): 29-34, 2015.
Article
in English
| MEDLINE | ID: mdl-26296711
5.
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
Hepatology
; 57(6): 2171-9, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-22961727
6.
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
Hum Mutat
; 34(3): 446-52, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23281071
7.
Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate.
Mol Genet Metab Rep
; 6: 34-40, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-27014577
8.
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.
Eur J Hum Genet
; 23(1): 61-6, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-24713661
9.
Scurvy in New Zealand-a forgotten disease.
N Z Med J
; 130(1454): 86-87, 2017 04 28.
Article
in English
| MEDLINE | ID: mdl-28449021
10.
Correlation of nasal morphology to air-conditioning and clearance function.
Respir Physiol Neurobiol
; 179(2-3): 137-41, 2011 Dec 15.
Article
in English
| MEDLINE | ID: mdl-21802532
11.
Nasal levels of nitric oxide as an outcome variable in allergic upper respiratory tract disease: Influence of atopy and hayfever on nNO.
Am J Rhinol
; 20(5): 425-9, 2006.
Article
in English
| MEDLINE | ID: mdl-17063731
12.
Partial hexasomy of chromosome 15.
Am J Med Genet A
; 121A(3): 277-80, 2003 Sep 01.
Article
in English
| MEDLINE | ID: mdl-12923871
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