Works matching IS 16618769 AND DT 2023 AND VI 14 AND IP 4

Results: 11

Front & Back Matter.

Published in:: Molecular Syndromology, 2023, v. 14, n. 4, p. 1, doi. 10.1159/000533458
Publication type:: Article

Shifting the Focus of Molecular Syndromology from Individual Diagnoses to Outcome Analyses.

Published in:

2023

By:

Poot, Martin

Publication type:

Editorial

DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.

Published in:

Molecular Syndromology, 2023, v. 14, n. 4, p. 322, doi. 10.1159/000529494

By:

Özsoy, Özlem;
Cinleti, Tayfun;
Günay, Çağatay;
Sarıkaya Uzan, Gamze;
Yeşilmen, Mehmet Can;
Lochmüller, Hanns;
Horvath, Rita;
Yiş, Uluç;
Oktay, Yavuz;
Hiz Kurul, Semra

Publication type:

Article

A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family.

Published in:

Molecular Syndromology, 2023, v. 14, n. 4, p. 293, doi. 10.1159/000529427

By:

Naudhani, Sara;
Ahmad, Adeel;
Khan Bazai, Fariya;
Pervez, Muhammad Tariq;
Zafar, Azqa;
Shah, Sajjad Ali;
Raheem, Nafeesa;
Baloch, Abdul Hameed;
Mushtaq, Muhammad;
Daud, Shakeela

Publication type:

Article

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.

Published in:

Molecular Syndromology, 2023, v. 14, n. 4, p. 270, doi. 10.1159/000530256

By:

Wurfbain, Lisca Florence;
Cox, Inge Lucia;
van Dooren, Maria Francisca;
Lachmeijer, Augusta Maria Antonia;
Verhoeven, Virginie Johanna Maria;
van Hagen, Johanna Maria;
Heijligers, Malou;
Klein Wassink - Ruiter, Jolien Sietske;
Koene, Saskia;
Maas, Saskia Mariska;
Veenstra - Knol, Hermine Elisabeth;
Ploos van Amstel, Johannes Kristian;
Massink, Maarten Pieter Gerrit;
Mink van der Molen, Aebele Barber;
van den Boogaard, Marie-José Henriette

Publication type:

Article

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.

Published in:

Molecular Syndromology, 2023, v. 14, n. 4, p. 303, doi. 10.1159/000530197

By:

Izumi, Kosuke;
Ganetzky, Rebecca D.;
Wertheim, Gerald B.W.;
Skraban, Cara M.;
Bedoukian, Emma C.;
Wilkens, Alisha;
Fincher, Christopher;
Thomas, Nina H.;
Ginsberg, Jill P.;
Rheingold, Susan R.;
Conlin, Laura K.;
Deardorff, Matthew A.

Publication type:

Article

X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features.

Published in:

Molecular Syndromology, 2023, v. 14, n. 4, p. 283, doi. 10.1159/000529545

By:

Ahmed, Rania R.;
Medhat, Amina M.;
Hamdy, Germine M.;
Effat, Laila K.E.;
Abdel-Hamid, Mohamed S.;
Abdel-Salam, Ghada M.H.

Publication type:

Article

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.

Published in:

Molecular Syndromology, 2023, v. 14, n. 4, p. 347, doi. 10.1159/000529306

By:

Grassi, Mara;
Laubscher, Bernard;
Pandey, Amit V.;
Tschumi, Sibylle;
Graber, Franziska;
Schaller, André;
Janner, Marco;
Aeberli, Daniel;
Hewer, Ekkehard;
Nuoffer, Jean-Marc;
Gautschi, Matthias

Publication type:

Article

Identification of a Novel de novo Splicing Mutation in Duchenne Muscular Dystrophy Gene in an Iranian Family.

Published in:

Molecular Syndromology, 2023, v. 14, n. 4, p. 331, doi. 10.1159/000528035

By:

Kavousi, Saeideh;
Pourahmadiyan, Azam;
Soleymani, Fatemeh;
Noruzinia, Mehrdad

Publication type:

Article

Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia.

Published in:

Molecular Syndromology, 2023, v. 14, n. 4, p. 341, doi. 10.1159/000528980

By:

Toral López, Jaime;
González Huerta, Luz María

Publication type:

Article

Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies.

Published in:

Molecular Syndromology, 2023, v. 14, n. 4, p. 310, doi. 10.1159/000528472

By:

Martínez Anaya, Daniel;
Juárez-Velázquez, María del Rocío;
Reyes Ruvalcaba, Sinuhé;
Navarrete-Meneses, María del Pilar;
Salas Labadía, Consuelo;
Lieberman Hernández, Esther;
Pérez-Vera, Patricia

Publication type:

Article