Harms FL - Search Results

1

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S. Velho RV, et al. Among authors: harms fl. Hum Mutat. 2019 Jul;40(7):842-864. doi: 10.1002/humu.23748. Epub 2019 Apr 13. Hum Mutat. 2019. PMID: 30882951

2

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.

Shukla A, Hebbar M, Harms FL, Kadavigere R, Girisha KM, Kutsche K. Shukla A, et al. Among authors: harms fl. Am J Med Genet A. 2016 Nov;170(11):2998-3003. doi: 10.1002/ajmg.a.37759. Epub 2016 May 18. Am J Med Genet A. 2016. PMID: 27191798

3

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

Harms FL, Nampoothiri S, Anazi S, Yesodharan D, Alawi M, Kutsche K, Alkuraya FS. Harms FL, et al. Am J Med Genet A. 2018 Feb;176(2):477-482. doi: 10.1002/ajmg.a.38568. Epub 2017 Dec 22. Am J Med Genet A. 2018. PMID: 29271567

4

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Harms FL, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K. Harms FL, et al. Am J Hum Genet. 2018 Oct 4;103(4):579-591. doi: 10.1016/j.ajhg.2018.09.005. Am J Hum Genet. 2018. PMID: 30290153 Free PMC article.

5

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.

Kloth K, Bierhals T, Johannsen J, Harms FL, Juusola J, Johnson MC, Grange DK, Kutsche K. Kloth K, et al. Among authors: harms fl. Hum Genet. 2019 Jun;138(6):625-634. doi: 10.1007/s00439-019-02011-x. Epub 2019 Apr 8. Hum Genet. 2019. PMID: 30963242

6

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Danyukova T, Ludwig NF, Velho RV, Harms FL, Güneş N, Tidow H, Schwartz IV, Tüysüz B, Pohl S. Danyukova T, et al. Among authors: harms fl. Hum Mutat. 2020 Jan;41(1):133-139. doi: 10.1002/humu.23928. Epub 2019 Oct 14. Hum Mutat. 2020. PMID: 31579991

7

Single-channel properties of skeletal muscle ryanodine receptor pore Δ⁴⁹²³FF⁴⁹²⁴ in two brothers with a lethal form of fetal akinesia.

Xu L, Harms FL, Chirasani VR, Pasek DA, Kortüm F, Meinecke P, Dokholyan NV, Kutsche K, Meissner G. Xu L, et al. Among authors: harms fl. Cell Calcium. 2020 May;87:102182. doi: 10.1016/j.ceca.2020.102182. Epub 2020 Feb 17. Cell Calcium. 2020. PMID: 32097819 Free PMC article.

8

Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa.

Chateau A, Kutsche K, Fuchs S, Harms F, Kruse CH, Mosam A. Chateau A, et al. Int J Dermatol. 2020 Jul;59(7):864-866. doi: 10.1111/ijd.14905. Epub 2020 May 9. Int J Dermatol. 2020. PMID: 32386085 No abstract available.

9

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.

Harms FL, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday BJ, McKeown C, Sampaio H, Radhakrishnan N, Radhakrishnan SK, Gorce M, Navet B, Ziegler A, Sachdev R, Robertson SP, Nampoothiri S, Kutsche K. Harms FL, et al. Hum Mutat. 2020 Sep;41(9):1645-1661. doi: 10.1002/humu.24071. Epub 2020 Jul 15. Hum Mutat. 2020. PMID: 32623794

10

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl^-/H⁺-Exchanger, Causes Early-Onset Neurodegeneration.

Polovitskaya MM, Barbini C, Martinelli D, Harms FL, Cole FS, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner DJ, Kutsche K, Tartaglia M, Jentsch TJ. Polovitskaya MM, et al. Among authors: harms fl. Am J Hum Genet. 2020 Dec 3;107(6):1062-1077. doi: 10.1016/j.ajhg.2020.11.004. Epub 2020 Nov 19. Am J Hum Genet. 2020. PMID: 33217309 Free PMC article.

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