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Klaas Wierenga
Klaas Wierenga
mayo.edu üzerinde doğrulanmış e-posta adresine sahip - Ana Sayfa
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ...
The American Journal of Human Genetics 101 (5), 664-685, 2017
3992017
Survival estimates for patients with homozygous sickle-cell disease in Jamaica: a clinic-based population study
KJJ Wierenga, IR Hambleton, NA Lewis, SC Unit
The Lancet 357 (9257), 680-683, 2001
2582001
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
V Nesin, G Wiley, M Kousi, EC Ong, T Lehmann, DJ Nicholl, M Suri, ...
Proceedings of the National Academy of Sciences 111 (11), 4197-4202, 2014
2542014
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ...
Nature genetics 49 (10), 1529-1538, 2017
1932017
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
DP Dimmock, Q Zhang, C Dionisi‐Vici, R Carrozzo, J Shieh, LY Tang, ...
Human mutation 29 (2), 330-331, 2008
1802008
Galactose toxicity in animals
K Lai, LJ Elsas, KJ Wierenga
IUBMB life 61 (11), 1063-1074, 2009
1322009
Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures
S Petrovski, S Küry, CT Myers, K Anyane-Yeboa, B Cogné, M Bialer, F Xia, ...
The American Journal of Human Genetics 98 (5), 1001-1010, 2016
1192016
Delayed adolescent growth in homozygous sickle cell disease.
A Singhal, P Thomas, R Cook, K Wierenga, G Serjeant
Archives of disease in childhood 71 (5), 404-408, 1994
1151994
Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update
AK Bergmann, I Sahai, JF Falcone, J Fleming, A Bagg, C Borgna-Pignati, ...
The Journal of pediatrics 155 (6), 888-892. e1, 2009
1102009
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31. 3 microdeletion syndrome
SR Lalani, J Zhang, CP Schaaf, CW Brown, P Magoulas, ACH Tsai, ...
The American Journal of Human Genetics 95 (5), 579-583, 2014
1072014
Glomerulonephritis after human parvovirus infection in homozygous sickle-cell disease
KJJ Wierenga, BE Serjeant, GR Serjeant, W Williams, M Miller, DJ Shah, ...
The Lancet 346 (8973), 475-476, 1995
1071995
Detection and quantification of mosaic mutations in disease genes by next-generation sequencing
L Qin, J Wang, X Tian, H Yu, C Truong, JJ Mitchell, KJ Wierenga, ...
The Journal of Molecular Diagnostics 18 (3), 446-453, 2016
982016
POGZ truncating alleles cause syndromic intellectual disability
J White, CR Beck, T Harel, JE Posey, SN Jhangiani, S Tang, KD Farwell, ...
Genome Medicine 8, 1-11, 2016
952016
Cerebrovascular complications and parvovirus infection in homozygous sickle cell disease
KJJ Wierenga, BE Serjeant, GR Serjeant
The Journal of pediatrics 139 (3), 438-442, 2001
922001
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility
JC Wang, L Ross, LW Mahon, R Owen, M Hemmat, BT Wang, ...
European Journal of Human Genetics 23 (5), 663-671, 2015
712015
Innovative therapy for Classic Galactosemia—Tale of two HTS
M Tang, SI Odejinmi, H Vankayalapati, KJ Wierenga, K Lai
Molecular genetics and metabolism 105 (1), 44-55, 2012
672012
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
X Luo, JA Rosenfeld, S Yamamoto, T Harel, Z Zuo, M Hall, KJ Wierenga, ...
PLoS genetics 13 (7), e1006905, 2017
662017
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents
KJ Wierenga, Z Jiang, AC Yang, JJ Mulvihill, NF Tsinoremas
Genetics in Medicine 15 (5), 354-360, 2013
662013
Is there an energy deficiency in homozygous sickle cell disease?
A Singhal, P Davies, KJ Wierenga, P Thomas, G Serjeant
The American journal of clinical nutrition 66 (2), 386-390, 1997
641997
Arginine: glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide
S Stockler-Ipsiroglu, D Apatean, R Battini, S DeBrosse, K Dessoffy, ...
Molecular genetics and metabolism 116 (4), 252-259, 2015
622015
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