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

Results: 11

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
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
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
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
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
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
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
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