Works matching IS 2324-9269 AND VI 11 AND IP 6 AND DT 2023

Results: 16

Correction to "A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype".

Published in:: 2023
Publication type:: Correction Notice

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2164

By:

McClinton, Benjamin;
Crinnion, Laura A.;
McKibbin, Martin;
Mukherjee, Rajarshi;
Poulter, James A.;
Smith, Claire E. L.;
Ali, Manir;
Watson, Christopher M.;
Inglehearn, Chris F.;
Toomes, Carmel

Publication type:

Article

Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy.

Published in:

2023

By:

Xie, Yanshu;
Luo, Jingsi;
Zhong, Jingzi;
Liu, Xu;
Tang, Jing;
Lan, Dan

Publication type:

Case Study

Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2177

By:

He, Shuang;
Chen, Shuai;
Li, Shu‐Jian;
Zhang, Jie‐Wen;
Liang, Xin‐Liang

Publication type:

Article

New insights into X‐linked adrenal hypoplasia congenita from a novel splice‐site variant of NR0B1 and adrenal CT images.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2171

By:

Jiang, Yuqing;
Peng, Huifang;
Zhao, Rui;
Chang, Yina;
Liu, Jie;
Fu, Liujun;
Li, Liping;
Ma, Yujin;
Li, Wei;
Jiang, Hongwei

Publication type:

Article

Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2160

By:

Hsu, Rai‐Hseng;
Lee, Chen‐Hao;
Chien, Yin‐Hsiu;
Lin, Shuan‐Pei;
Hung, Miao‐Zi;
Chen, Nai‐Chi;
Lin, Yi‐Lin;
Hwu, Wuh‐Liang;
Lee, Ni‐Chung

Publication type:

Article

First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP‐C founder mutation.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2158

By:

Khalat, Najlaa;
Messaoud, Olfa;
Ben Rekaya, Mariem;
Chargui, Mariem;
Zghal, Mohamed;
Zendah, Bashir;
Saqer, Najat;
Mokni, Mourad;
Abdelhak, Sonia;
Mohamed, Othman A.

Publication type:

Article

AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2157

By:

Roht, Laura;
Hyldebrandt, Hanne K.;
Stormorken, Astrid T.;
Nordgarden, Hilde;
Sijmons, Rolf H.;
Bos, Dennis K.;
Riegert‐Johnson, Douglas;
Mantia‐Macklin, Sarah;
Ilves, Pilvi;
Muru, Kai;
Wojcik, Monica H.;
Kahre, Tiina;
Õunap, Katrin

Publication type:

Article

Genetic characterization of the Berber‐speaking population of Souss (Morocco) based on autosomal STRs.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2156

By:

Dahbi, Noura;
Cheffi, Khadija;
El Khair, Abderrazak;
Habbibeddine, Lamiaa;
Talbi, Jalal;
Hilali, Abderraouf;
El Ossmani, Hicham

Publication type:

Article

Prenatal phenotype of Wolf–Hirschhorn syndrome: A case series and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2155

By:

Tang, Feng;
Zeng, Yang;
Wang, Li;
Yin, Daishu;
Chen, Lin;
Xie, Dan;
Wang, Jing

Publication type:

Article

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2159

By:

Ashrafi, Mahmoud Reza;
Dehnavi, Ali Zare;
Tavasoli, Ali Reza;
Heidari, Morteza;
Ghahvechi Akbari, Masoud;
Ronagh, Ali Reza;
Ghafouri, Mohammad;
Mahdieh, Nejat;
Mohammadi, Pouria;
Rezaei, Zahra

Publication type:

Article

ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2153

By:

Ahangari, Najmeh;
Gholampour‐Faroji, Nazanin;
Doosti, Mohammad;
Ghayour Mobarhan, Majid;
Shahrokhzadeh, Sima;
Karimiani, Ehsan Ghayoor;
Hasani‐sabzevar, Bahareh;
Torbati, Paria Najarzadeh;
Haddad‐Mashadrizeh, Aliakbar

Publication type:

Article

Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2151

By:

Witt, Dennis;
Faust, Ulrike;
Strobl‐Wildemann, Gertrud;
Sturm, Marc;
Buchert, Rebecca;
Zuleger, Theresia;
Admard, Jakob;
Casadei, Nicolas;
Ossowski, Stephan;
Haack, Tobias B.;
Rieß, Olaf;
Schroeder, Christopher

Publication type:

Article

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2152

By:

Men, Shuai;
Liu, Shuang;
Zheng, Qin;
Yang, Shuting;
Mao, Huafen;
Wang, Zhiwei;
Gu, Ying;
Tang, Xinxin;
Wang, Leilei

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.1978
Publication type:: Article

A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation.

Published in:

2023

By:

Vlckova, Marketa;
Prchalova, Darina;
Zimmermann, Pavel;
Haberlova, Jana;
Bendova, Sarka;
Moslerova, Veronika;
Stranecky, Viktor;
Sedlacek, Zdenek;
Hancarova, Miroslava

Publication type:

Case Study