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The Heritage Treasures of Toppieshoek.
- Published in:
- MNASSA: Monthly Notes of the Astronomical Society of Southern Africa, 2024, v. 83, n. 7/8, p. 85
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- Publication type:
- Article
The utility of cerebrospinal fluid-- derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006188
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- Publication type:
- Article
A case of true hermaphroditism reveals an unusual mechanism of twinning.
- Published in:
- Human Genetics, 2007, v. 121, n. 2, p. 179, doi. 10.1007/s00439-006-0279-x
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- Publication type:
- Article
Ring chromosome 15: characterization by array CGH.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 611, doi. 10.1007/s00439-005-0030-z
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- Publication type:
- Article
Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39337-0
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- Publication type:
- Article
MerTK is a mediator of alpha-synuclein fibril uptake by human microglia.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 2, p. 427, doi. 10.1093/brain/awad298
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- Publication type:
- Article
Recessive mutations in VPS13D cause childhood onset movement disorders.
- Published in:
- 2018
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- Publication type:
- journal article
Hedgehog Signaling Pathway Orchestrates Human Lung Branching Morphogenesis.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 5265, doi. 10.3390/ijms23095265
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- Publication type:
- Article
The Square Kilometre Array radio telescope: A media darling.
- Published in:
- 2018
- By:
- Publication type:
- Book Review
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
- Published in:
- Acta Neuropathologica, 2011, v. 121, n. 4, p. 545, doi. 10.1007/s00401-010-0748-0
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- Publication type:
- Article
Joubert syndrome (and related disorders) (OMIM 213300).
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 511, doi. 10.1038/sj.ejhg.5201648
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- Publication type:
- Article
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
- Published in:
- Nature Genetics, 2012, v. 44, n. 2, p. 193, doi. 10.1038/ng.1078
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- Publication type:
- Article
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
- Published in:
- Nature Genetics, 2007, v. 39, n. 7, p. 882, doi. 10.1038/ng2069
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- Publication type:
- Article
Aortic Root Dilatation is a Rare Complication of Noonan Syndrome.
- Published in:
- Pediatric Cardiology, 2006, v. 27, n. 4, p. 478, doi. 10.1007/s00246-006-1210-x
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- Publication type:
- Article
My years as an Astronomer.
- Published in:
- MNASSA: Monthly Notes of the Astronomical Society of Southern Africa, 2023, v. 82, n. 3/4, p. 56
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- Publication type:
- Article
Differences in Oral Structure and Tissue Interactions during Mouse vs. Human Palatogenesis: Implications for the Translation of Findings from Mice.
- Published in:
- Frontiers in Physiology, 2017, v. 8, p. 1, doi. 10.3389/fphys.2017.00154
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- Publication type:
- Article
Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 3, p. 374, doi. 10.1002/ajmg.c.31656
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- Publication type:
- Article
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 6, p. 442, doi. 10.1002/pd.1145
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- Publication type:
- Article
Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 8, p. 789, doi. 10.1002/(SICI)1097-0223(199808)18:8<789::AID-PD345>3.0.CO;2-9
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- Publication type:
- Article
EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.
- Published in:
- Skeletal Radiology, 2012, v. 41, n. 5, p. 607, doi. 10.1007/s00256-011-1261-9
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- Publication type:
- Article
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 1046, doi. 10.1002/acn3.51786
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- Publication type:
- Article
Opposing roles for TGFβ- and BMP-signaling during nascent alveolar differentiation in the developing human lung.
- Published in:
- NPJ Regenerative Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41536-023-00325-z
- By:
- Publication type:
- Article
DIVISION IX / COMMISSION 25 / WORKING GROUP INFRARED ASTRONOMY.
- Published in:
- Proceedings of the International Astronomical Union, 2011, v. 7, n. T28A, p. 297, doi. 10.1017/S1743921312003006
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- Publication type:
- Article
COMMISSION 41 WORKING GROUP on ASTRONOMY AND WORLD HERITAGE.
- Published in:
- Proceedings of the International Astronomical Union, 2010, v. 6, n. T27B, p. 267, doi. 10.1017/S174392131000534X
- By:
- Publication type:
- Article
DIVISION IX / COMMISSION 25 / WORKING GROUP: INFRARED ASTRONOMY.
- Published in:
- Proceedings of the International Astronomical Union, 2010, v. 6, n. T27B, p. 229, doi. 10.1017/S1743921310005211
- By:
- Publication type:
- Article
COMMISSION 41 WORKING GROUP on ASTRONOMY AND WORLD HERITAGE.
- Published in:
- Proceedings of the International Astronomical Union, 2009, v. 6, n. T27B, p. 267, doi. 10.1017/S174392131000534X
- By:
- Publication type:
- Article
DIVISION IX / COMMISSION 25 / WORKING GROUP: INFRARED ASTRONOMY.
- Published in:
- Proceedings of the International Astronomical Union, 2009, v. 6, n. T27B, p. 229, doi. 10.1017/S1743921310005211
- By:
- Publication type:
- Article
DIVISION IX / COMMISSION 25 / WORKING GROUP INFRARED ASTRONOMY.
- Published in:
- Proceedings of the International Astronomical Union, 2008, v. 4, n. T27A, p. 313, doi. 10.1017/S1743921308025751
- By:
- Publication type:
- Article
DIVISION IX / COMMISSION 25 / WORKING GROUP INFRARED ASTRONOMY.
- Published in:
- Proceedings of the International Astronomical Union, 2007, v. 3, n. T26B, p. 195, doi. 10.1017/S1743921308024083
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- Publication type:
- Article
The Cape Observatory at 200.
- Published in:
- Astronomy & Geophysics, 2020, v. 61, n. 5, p. 5.34, doi. 10.1093/astrogeo/ataa074
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- Publication type:
- Article
An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention Deficits.
- Published in:
- Epilepsia (Series 4), 2003, v. 44, n. 12, p. 1529, doi. 10.1111/j.0013-9580.2003.61702.x
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- Publication type:
- Article
Retinoic acid signaling regulates spatiotemporal specification of human green and red cones.
- Published in:
- PLoS Biology, 2024, v. 22, n. 1, p. 1, doi. 10.1371/journal.pbio.3002464
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- Publication type:
- Article
Prof. Donald Lynden-Bell CBE, FRS.
- Published in:
- 2018
- By:
- Publication type:
- Obituary
The Jewel on the Mountaintop: Fifty years of the European Southern Observatory.
- Published in:
- 2013
- By:
- Publication type:
- Book Review
Mapping South Africa: A Historical Survey of South African Maps and Charts.
- Published in:
- 2012
- By:
- Publication type:
- Book Review
Astronomy Delights.
- Published in:
- 2012
- By:
- Publication type:
- Book Review
McClean Telescope back in service.
- Published in:
- MNASSA: Monthly Notes of the Astronomical Society of Southern Africa, 2012, v. 71, n. 3/4, p. 58
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- Publication type:
- Article
New Directors for SA Observatories.
- Published in:
- MNASSA: Monthly Notes of the Astronomical Society of Southern Africa, 2012, v. 71, n. 3/4, p. 51
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- Publication type:
- Article
An Introduction to Star Formation.
- Published in:
- 2011
- By:
- Publication type:
- Book Review
In the footsteps of La Caille, Everest and Maclear on the Kapokberg.
- Published in:
- MNASSA: Monthly Notes of the Astronomical Society of Southern Africa, 2011, v. 70, n. 7/8, p. 144
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- Publication type:
- Article
Visit to Super-Kamiokande.
- Published in:
- MNASSA: Monthly Notes of the Astronomical Society of Southern Africa, 2011, v. 70, n. 1/2, p. 12
- By:
- Publication type:
- Article
Eyes on the Skies: 400 Years of Telescope Technology.
- Published in:
- 2009
- By:
- Publication type:
- Book Review
The Astrolabe.
- Published in:
- 2008
- By:
- Publication type:
- Book Review
Living amongst the stars at the Johannesburg Observatory.
- Published in:
- 2007
- By:
- Publication type:
- Book Review
Andreas Cellarius Harmonia Macrocosmica of 1660: The Finest Atlas of the Heavens.
- Published in:
- 2007
- By:
- Publication type:
- Book Review
The Mount Wilson Observatory.
- Published in:
- 2006
- By:
- Publication type:
- Book Review
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 5, p. 1370, doi. 10.1093/brain/aws065
- By:
- Publication type:
- Article
Mutation Spectrum in RAB 3 GAP 1, RAB 3 GAP 2, and RAB 18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 686, doi. 10.1002/humu.22296
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- Publication type:
- Article
Epidermolysis bullosa simplex Dowling–Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.
- Published in:
- Australasian Journal of Dermatology, 2002, v. 43, n. 1, p. 28, doi. 10.1046/j.1440-0960.2002.00548.x
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- Publication type:
- Article
Mild phenotype in two siblings with distal monosomy 12p13.31→pter.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 5, p. 401, doi. 10.1034/j.1399-0004.2000.570513.x
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- Publication type:
- Article