Works matching IS 16618769 AND DT 2022 AND VI 13 AND IP 6

Results: 13

Hydrocephalus and Growth Retardation: A Fetal RNU4ATAC-opathy Missed by Whole-Exome Sequencing.

Published in:

Molecular Syndromology, 2022, v. 13, n. 6, p. 522, doi. 10.1159/000524501

By:

Chen, Yong-Shan;
He, Jie-Fu;
Quan, Tao;
Li, Shu-Bin;
Li, Dong-Zhi

Publication type:

Article

Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder.

Published in:

Molecular Syndromology, 2022, v. 13, n. 6, p. 517, doi. 10.1159/000524375

By:

Abe-Hatano, Chihiro;
Yokoi, Takayuki;
Ida, Kazumi;
Kurosawa, Kenji

Publication type:

Article

Front & Back Matter.

Published in:: Molecular Syndromology, 2022, v. 13, n. 6, p. 1, doi. 10.1159/000528949
Publication type:: Article

Contents.

Published in:: Molecular Syndromology, 2022, v. 13, n. 6, p. I, doi. 10.1159/000528675
Publication type:: Article

Acknowledgement to Reviewers.

Published in:: Molecular Syndromology, 2022, v. 13, n. 6, p. 551, doi. 10.1159/000528674
Publication type:: Article

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.

Published in:

Molecular Syndromology, 2022, v. 13, n. 6, p. 485, doi. 10.1159/000525020

By:

Silveira, Cynthia;
da Costa Silveira, Karina;
Lacarrubba-Flores, Maria D.;
Sakata, Maurício T.;
Carbognani, Silvia N.;
Llerena Jr., Juan;
Moreno, Carolina A.;
Cavalcanti, Denise P.

Publication type:

Article

COL7A1 Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus.

Published in:

Molecular Syndromology, 2022, v. 13, n. 6, p. 511, doi. 10.1159/000525047

By:

Zhao, Xuliang;
Sun, Weiwei;
Cui, Zhihui;
Yu, Min;
Wang, Qi;
Wang, Pengcheng;
Tian, Ruixia

Publication type:

Article

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.

Published in:

Molecular Syndromology, 2022, v. 13, n. 6, p. 543, doi. 10.1159/000524844

By:

Aleo, Sebastiano;
Pezzani, Lidia;
Milani, Donatella;
Pezzoli, Laura;
Marchisio, Paola;
Iascone, Maria

Publication type:

Article

Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1.

Published in:

Molecular Syndromology, 2022, v. 13, n. 6, p. 496, doi. 10.1159/000524710

By:

Benítez-Burraco, Antonio;
Jiménez-Romero, M. Salud;
Fernández-Urquiza, Maite

Publication type:

Article

Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.

Published in:

Molecular Syndromology, 2022, v. 13, n. 6, p. 527, doi. 10.1159/000524371

By:

Almeida, Vanessa T.;
Chehimi, Samar N.;
Gasparini, Yanca;
Nascimento, Amom M.;
Carvalho, Gleyson F.S.;
Montenegro, Marília M.;
Zanardo, Évelin Aline;
Dias, Alexandre T.;
Assunção, Nilson A.;
Kim, Chong A.;
Kulikowski, Leslie D.

Publication type:

Article

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions.

Published in:

Molecular Syndromology, 2022, v. 13, n. 6, p. 537, doi. 10.1159/000524703

By:

Akalın, Akçahan;
Şimşek-Kiper, Pelin Ö.;
Taşkıran, Ekim;
Utine, Gülen E.;
Boduroğlu, Koray

Publication type:

Article

Gene Mutations in Cushing's Syndrome.

Published in:

Molecular Syndromology, 2022, v. 13, n. 6, p. 459, doi. 10.1159/000524267

By:

Ojha, Utkarsh;
Ogunmwonyi, Innocent;
Xiang, Jinpo;
Ojha, Harsh

Publication type:

Article

Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature.

Published in:

Molecular Syndromology, 2022, v. 13, n. 6, p. 471, doi. 10.1159/000523937

By:

Gezdirici, Alper;
Kalaycik Şengül, Özlem;
Doğan, Mustafa;
Özgüven, Banu Y.;
Akbulut, Ekrem

Publication type:

Article