Skip Nav Destination
Close Modal
Update search
Filter
All
- All
- Title
- Author
- Author Affiliations
- Full Text
- Abstract
- Keyword
- DOI
- ISBN
- EISBN
- ISSN
- EISSN
- Issue
- Volume
- References
Filter
All
- All
- Title
- Author
- Author Affiliations
- Full Text
- Abstract
- Keyword
- DOI
- ISBN
- EISBN
- ISSN
- EISSN
- Issue
- Volume
- References
Filter
All
- All
- Title
- Author
- Author Affiliations
- Full Text
- Abstract
- Keyword
- DOI
- ISBN
- EISBN
- ISSN
- EISSN
- Issue
- Volume
- References
Filter
All
- All
- Title
- Author
- Author Affiliations
- Full Text
- Abstract
- Keyword
- DOI
- ISBN
- EISBN
- ISSN
- EISSN
- Issue
- Volume
- References
Filter
All
- All
- Title
- Author
- Author Affiliations
- Full Text
- Abstract
- Keyword
- DOI
- ISBN
- EISBN
- ISSN
- EISSN
- Issue
- Volume
- References
Filter
All
- All
- Title
- Author
- Author Affiliations
- Full Text
- Abstract
- Keyword
- DOI
- ISBN
- EISBN
- ISSN
- EISSN
- Issue
- Volume
- References
NARROW
Format
Subjects
Journal
Article Type
Issue Section
Date
Availability
1-6 of 6
Keywords: Genetics
Close
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Sort by
Journal Articles
Subject Area:
Genetics
Melisa Akgoz Koyuncuoglu, Hande Taylan Sekeroglu, Gizem Urel Demir, Ozlem Simsek Kiper, Jale Karakaya, Gulen Eda Utine
Journal:
Molecular Syndromology
Mol Syndromol (2025)
Published Online: 02 January 2025
..., quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2025 Down syndrome Ophthalmology Trisomy 21 Genetics Corneal topography...
Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol (2024) 15 (3): 194–201.
Published Online: 16 January 2024
... or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2024 Mucopolysaccharidosis Sanfilippo syndrome Genetics Lysosomal...
Journal Articles
Subject Area:
Genetics
Atilla Cayir, Ayberk Turkyilmaz, Hannah Rabenstein, Fadime Guven, Yuksel Sumeyra Karagoz, Dogus Vuralli, Martin Wabitsch, Huseyin Demirbilek
Journal:
Molecular Syndromology
Mol Syndromol (2024) 15 (2): 104–113.
Published Online: 19 December 2023
...Atilla Cayir; Ayberk Turkyilmaz; Hannah Rabenstein; Fadime Guven; Yuksel Sumeyra Karagoz; Dogus Vuralli; Martin Wabitsch; Huseyin Demirbilek Introduction: Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause...
Journal Articles
Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates)
, Karger e-Journal Backfile Collection 2023
, Endocrinology
, Further Areas
, Genetics
, Women's and Children's Health
Lisca Florence Wurfbain, Inge Lucia Cox, Maria Francisca van Dooren, Augusta Maria Antonia Lachmeijer, Virginie Johanna Maria Verhoeven, Johanna Maria van Hagen, Malou Heijligers, Jolien Sietske Klein Wassink - Ruiter, Saskia Koene, Saskia Mariska Maas, Hermine Elisabeth Veenstra - Knol, Johannes Kristian Ploos van Amstel, Maarten Pieter Gerrit Massink, Aebele Barber Mink van der Molen, Marie-José Henriette van den Boogaard
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (4): 270–282.
Published Online: 08 June 2023
...-syndromic (isolated) and syndromic forms. Many cleft-related syndromes are clinically variable and genetically heterogeneous, making it challenging to distinguish syndromic from non-syndromic cases. Recognition of syndromic/genetic causes is important for personalized tailored care, identification...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2016) 7 (4): 197–209.
Published Online: 22 July 2016
... been the object of particular attention and in-depth research over the past years: the N-methyl-D-aspartate receptor and the leucin-rich glioma-inactivated protein 1 (LGI1). We also describe illustrative examples of situations in which genetics and immunology meet in the complex pathways that underlie...
Journal Articles
Subject Area:
Topic Article Package: Diabetes
, Endocrinology
, Further Areas
, Genetics
, Women's and Children's Health
Journal:
Molecular Syndromology
Mol Syndromol (2013) 4 (1-2): 7–15.
Published Online: 11 January 2013
.... Genetic or environmental influences that affect the anlage of these structures may occur earlier than the days indicated. Fig. 1. Approximate days post conception during which anatomic structures in VACTERL association are formed. Genetic or environmental influences that affect the anlage...