Found: 80
Select item for more details and to access through your institution.
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 5, p. 1, doi. 10.15252/emmm.202216775
- By:
- Publication type:
- Article
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0235-8
- By:
- Publication type:
- Article
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
- Published in:
- 2011
- By:
- Publication type:
- journal article
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 7, p. 516, doi. 10.1038/jhg.2011.51
- By:
- Publication type:
- Article
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 618, doi. 10.1002/ajmg.c.31823
- By:
- Publication type:
- Article
A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 624, doi. 10.1002/ajmg.a.63045
- By:
- Publication type:
- Article
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1278, doi. 10.1002/ajmg.a.61542
- By:
- Publication type:
- Article
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2892, doi. 10.1002/ajmg.a.36709
- By:
- Publication type:
- Article
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 326, doi. 10.1002/jimd.12595
- By:
- Publication type:
- Article
ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 969, doi. 10.1002/jimd.12527
- By:
- Publication type:
- Article
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 907, doi. 10.1002/jimd.12506
- By:
- Publication type:
- Article
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1037, doi. 10.1002/jimd.12249
- By:
- Publication type:
- Article
Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II‐III deficiency in liver and muscle.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 481, doi. 10.1007/s10545-010-9246-8
- By:
- Publication type:
- Article
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 4, p. 691, doi. 10.1093/hmg/ddx435
- By:
- Publication type:
- Article
Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3050, doi. 10.1093/hmg/ddv057
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2024, v. 42, n. 4, p. 6
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2023, v. 42, n. 3, p. 6
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2023, v. 42, n. 2, p. 18
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2023, v. 42, n. 2, p. 6
- By:
- Publication type:
- Article
IS THERE SUCH A THING AS A MAGICAL SNOWPIT?
- Published in:
- Avalanche Review, 2023, v. 42, n. 1, p. 22
- By:
- Publication type:
- Article
DIGGING INTO FORECASTING.
- Published in:
- Avalanche Review, 2023, v. 42, n. 1, p. 20
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2023, v. 42, n. 1, p. 6
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2023, v. 41, n. 3, p. 6
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2022, v. 41, n. 2, p. 6
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2022, v. 41, n. 1, p. 6
- By:
- Publication type:
- Article
MY PEOPLE, MY MISSION: an invitation to conversation.
- Published in:
- Avalanche Review, 2021, v. 40, n. 2, p. 6
- By:
- Publication type:
- Article
HAPPY 40<sup>TH</sup> TAR!
- Published in:
- Avalanche Review, 2021, v. 40, n. 1, p. 6
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2021, v. 39, n. 4, p. 6
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2021, v. 39, n. 3, p. 6
- By:
- Publication type:
- Article
Anything but Normal... 2019-2020 AVALANCHE CENTER SEASON SUMMARIES: PART 2.
- Published in:
- Avalanche Review, 2020, v. 39, n. 2, p. 35
- By:
- Publication type:
- Article
The Ski Guide Manual: Advanced Techniques for the Backcountry.
- Published in:
- Avalanche Review, 2020, v. 39, n. 2, p. 44
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2020, v. 39, n. 2, p. 6
- By:
- Publication type:
- Article
IN MEMORIAM.
- Published in:
- Avalanche Review, 2020, v. 39, n. 1, p. 14
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2020, v. 39, n. 1, p. 6
- By:
- Publication type:
- Article
SLED TALKS.
- Published in:
- Avalanche Review, 2020, v. 38, n. 4, p. 7
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2020, v. 38, n. 4, p. 6
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2020, v. 38, n. 3, p. 6
- By:
- Publication type:
- Article
DIVEST NOW!
- Published in:
- Avalanche Review, 2019, v. 38, n. 2, p. 45
- By:
- Publication type:
- Article
FROM THE EDITOR: Tools for the Upcoming Season.
- Published in:
- Avalanche Review, 2019, v. 38, n. 2, p. 6
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2019, v. 38, n. 1, p. 6
- By:
- Publication type:
- Article
STAYING ALIVE IN AVALANCHE TERRAIN, 3RD EDITION.
- Published in:
- Avalanche Review, 2019, v. 37, n. 4, p. 9
- By:
- Publication type:
- Article
SETTLEMENT ROUND TABLE.
- Published in:
- Avalanche Review, 2019, v. 37, n. 4, p. 18
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2019, v. 37, n. 4, p. 3
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2019, v. 37, n. 3, p. 3
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2017, v. 36, n. 2, p. 3
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2018, v. 37, n. 2, p. 3
- By:
- Publication type:
- Article
FROM THE EDITOR.
- Published in:
- Avalanche Review, 2018, v. 37, n. 1, p. 3
- By:
- Publication type:
- Article