Cascade screening outcome in a nationwide cohort and genotype-phenotype relationship

被引：0

作者：

Effraimidis, Grigorios ^{[1
]}

Rasmussen, Ase Krogh ^{[1
]}

Hasholt, Lis Frydenreich ^{[2
]}

Duno, Morten ^{[1
]}

Wibrand, Flemming ^{[1
]}

Feldt-Rasmussen, Ulla ^{[1
]}

机构：

[1] Copenhagen Univ Hosp, Rigshosp, Copenhagen, Denmark

[2] Univ Copenhagen, Panum Inst, Copenhagen, Denmark

来源：

MOLECULAR GENETICS AND METABOLISM | 2020年 / 129卷 / 02期

关键词：

D O I：

10.1016/j.ymgme.2019.11.116

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

107

引用

页码：S52 / S52

页数：1

共 50 条

[21] Whither the genotype-phenotype relationship? An historical and methodological appraisal
Fisch, Gene S.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2017, 175 (03) : 343 - 353
[22] On genotype-phenotype relationship of dystrophinopathies among Iranian population
Basiri, Keivan
Alizadeh, Maryam
Ansari, Behnaz
Ghasemi, Majid
Kheradmand, Mohsen
Sedghi, Maryam
CURRENT JOURNAL OF NEUROLOGY, 2023, 22 (04): : 231 - 237
[23] The complex genotype-phenotype relationship in familial adenomatous polyposis
Järvinen, HJ
Peltomäki, P
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, 2004, 16 (01) : 5 - 8
[24] Variability in Patients with Psoriasis: Insights into the Genotype-Phenotype Relationship
Shelling, Michael L.
Kirsner, Robert S.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 (09) : 1784 - 1784
[25] Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis
Yamashita, Satoshi
Ando, Yukio
TRANSLATIONAL NEURODEGENERATION, 2015, 4
[26] Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis
Satoshi Yamashita
Yukio Ando
Translational Neurodegeneration, 4
[27] X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort
Fortunato, P.
Pagliazzi, A.
Bargiacchi, S.
Marziali, E.
Sodi, A.
Caputo, R.
Passerini, I
Pelo, E.
Bacci, G. M.
OPHTHALMIC GENETICS, 2023, 44 (01) : 35 - 42
[28] Genotype-phenotype correlations
Bauce, Barbara
Nava, Andrea
ARRHYTHMOGENIC RV CARDIOMYOPATHY/ DYSPLASIA: RECENT ADVANCES, 2007, : 21 - +
[29] The genotype-phenotype link
Rasmuson, M
HEREDITAS, 2002, 136 (01): : 1 - 6
[30] Genotype-Phenotype Maps
Stadler P.F.
Stadler B.M.R.
Biological Theory, 2006, 1 (3) : 268 - 279

← 1 2 3 4 5 →