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The clinical spectrum of type IV collagen mutations

Lemmink, Henny H. ; Schröder, Cornelis H. ; Monnens, Leo A. H. ; [et al.]

Hindawi Limited ; 1997

In: Human Mutation Vol. 9, No. 6 ( 1997-01), p. 477-499

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In: Human Mutation, Hindawi Limited, Vol. 9, No. 6 ( 1997-01), p. 477-499

Type of Medium: Online Resource

ISSN: 1059-7794 , 1098-1004

URL: Issue

URL: Article

DOI: 10.1002/(SICI)1098-1004(1997)9:6〈〉1.0.CO;2-U

DOI: 10.1002/(SICI)1098-1004(1997)9:6〈477::AID-HUMU1〉3.0.CO;2-#

Language: English

Publisher: Hindawi Limited

Publication Date: 1997

detail.hit.zdb_id: 1498165-8

SSG: 12

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A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls

Wadman, Renske I. ; Stam, Marloes ; Jansen, Marc D. ; [et al.]

Public Library of Science (PLoS) ; 2016

In: PLOS ONE Vol. 11, No. 11 ( 2016-11-28), p. e0167087-

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In: PLOS ONE, Public Library of Science (PLoS), Vol. 11, No. 11 ( 2016-11-28), p. e0167087-

Type of Medium: Online Resource

ISSN: 1932-6203

URL: Article

DOI: 10.1371/journal.pone.0167087

DOI: 10.1371/journal.pone.0167087.g001

DOI: 10.1371/journal.pone.0167087.g002

DOI: 10.1371/journal.pone.0167087.g003

DOI: 10.1371/journal.pone.0167087.g004

DOI: 10.1371/journal.pone.0167087.g005

DOI: 10.1371/journal.pone.0167087.t001

DOI: 10.1371/journal.pone.0167087.t002

DOI: 10.1371/journal.pone.0167087.t003

DOI: 10.1371/journal.pone.0167087.t004

DOI: 10.1371/journal.pone.0167087.s001

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2016

detail.hit.zdb_id: 2267670-3

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Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin

Van Der Loop, Frank T.L. ; Monnens, Leo A.H. ; Schröder, Cornelis H. ; [et al.]

Elsevier BV ; 1999

In: Kidney International Vol. 55, No. 4 ( 1999-04), p. 1217-1224

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In: Kidney International, Elsevier BV, Vol. 55, No. 4 ( 1999-04), p. 1217-1224

Type of Medium: Online Resource

ISSN: 0085-2538

URL: Article

DOI: 10.1046/j.1523-1755.1999.00357.x

Language: English

Publisher: Elsevier BV

Publication Date: 1999

detail.hit.zdb_id: 2007940-0

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Analysis of FUS , PFN2, TDP-43 , and PLS3 as potential disease severity modifiers in spinal muscular atrophy

Wadman, Renske I. ; Jansen, Marc D. ; Curial, Chantall A.D. ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2020

In: Neurology Genetics Vol. 6, No. 1 ( 2020-02)

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In: Neurology Genetics, Ovid Technologies (Wolters Kluwer Health), Vol. 6, No. 1 ( 2020-02)

Type of Medium: Online Resource

ISSN: 2376-7839

URL: Article

DOI: 10.1212/NXG.0000000000000386

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2020

detail.hit.zdb_id: 2818607-2

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Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

Bremer, Jeroen ; van der Heijden, Elisabeth H. ; Eichhorn, Daryll S. ; [et al.]

Elsevier BV ; 2019

In: Molecular Therapy - Nucleic Acids Vol. 18 ( 2019-12), p. 465-475

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In: Molecular Therapy - Nucleic Acids, Elsevier BV, Vol. 18 ( 2019-12), p. 465-475

Type of Medium: Online Resource

ISSN: 2162-2531

URL: Article

DOI: 10.1016/j.omtn.2019.09.009

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 2662631-7

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Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4

Wadman, Renske I ; Stam, Marloes ; Gijzen, Marleen ; [et al.]

BMJ ; 2017

In: Journal of Neurology, Neurosurgery & Psychiatry Vol. 88, No. 4 ( 2017-04), p. 365-367

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In: Journal of Neurology, Neurosurgery & Psychiatry, BMJ, Vol. 88, No. 4 ( 2017-04), p. 365-367

Type of Medium: Online Resource

ISSN: 0022-3050 , 1468-330X

URL: Article

DOI: 10.1136/jnnp-2016-314292

RVK:

XA 10000

Language: English

Publisher: BMJ

Publication Date: 2017

detail.hit.zdb_id: 1480429-3

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Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene

Clabbers, Julia M. K. ; Bolling, Marieke C. ; Burms, Charlotte ; [et al.]

Wiley ; 2023

In: Journal of the European Academy of Dermatology and Venereology Vol. 37, No. 4 ( 2023-04)

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In: Journal of the European Academy of Dermatology and Venereology, Wiley, Vol. 37, No. 4 ( 2023-04)

Type of Medium: Online Resource

ISSN: 0926-9959 , 1468-3083

URL: Issue

URL: Article

DOI: 10.1111/jdv.v37.4

DOI: 10.1111/jdv.18699

Language: English

Publisher: Wiley

Publication Date: 2023

detail.hit.zdb_id: 2022088-1

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Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families

Lemmink, Henny H. ; van den Heuvel, Lambert P. W. J. ; van Dijk, Henk A. ; [et al.]

Springer Science and Business Media LLC ; 1996

In: Pediatric Nephrology Vol. 10, No. 4 ( 1996-8-5), p. 403-407

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In: Pediatric Nephrology, Springer Science and Business Media LLC, Vol. 10, No. 4 ( 1996-8-5), p. 403-407

Type of Medium: Online Resource

ISSN: 0931-041X , 1432-198X

URL: Article

DOI: 10.1007/s004670050129

Language: Unknown

Publisher: Springer Science and Business Media LLC

Publication Date: 1996

detail.hit.zdb_id: 1463004-7

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Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome

Smeets, Hubert J.M. ; Melenhorst, Jos J. ; Lemmink, Henny H. ; [et al.]

Elsevier BV ; 1992

In: Kidney International Vol. 42, No. 1 ( 1992-07), p. 83-88

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In: Kidney International, Elsevier BV, Vol. 42, No. 1 ( 1992-07), p. 83-88

Type of Medium: Online Resource

ISSN: 0085-2538

URL: Article

DOI: 10.1038/ki.1992.264

Language: English

Publisher: Elsevier BV

Publication Date: 1992

detail.hit.zdb_id: 2007940-0

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Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome

Lemmink, Henny H. ; MochlzukJ, Toshlo ; van den Heuvel, Lambertus P.W.J. ; [et al.]

Oxford University Press (OUP) ; 1994

In: Human Molecular Genetics Vol. 3, No. 8 ( 1994), p. 1269-1273

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In: Human Molecular Genetics, Oxford University Press (OUP), Vol. 3, No. 8 ( 1994), p. 1269-1273

Type of Medium: Online Resource

ISSN: 0964-6906 , 1460-2083

URL: Article

DOI: 10.1093/hmg/3.8.1269

RVK:

XA 10000

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 1994

detail.hit.zdb_id: 1474816-2

SSG: 12

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