Molecular Syndromology
Overview
Molecular Syndromology is a scientific journal, published since 2010 in English. The journal's country of origin is Switzerland.
Details
Details
Abbr.
Mol Syndromol
Start
2010
End
Continuing
Frequency
Bimonthly
p-ISSN
1661-8769
e-ISSN
1661-8777
Country
Switzerland
Language
English
Metrics
Metrics
h-index / Ranks: 8422
42
SJR / Ranks: 10608
385
CiteScore / Ranks: 9425
2.60
JIF / Ranks: 6694
1.1
Recent Articles
1.
Sonmez B, Kocabey M, Polat A, Gursoy S, Karaoglu P, Horvath R, et al.
Mol Syndromol
. 2025 Feb;
16(1):61-68.
PMID: 39911178
Introduction: Nemaline myopathy (NEM) is a heterogeneous muscle disease, which usually presents with hypotonia and muscle weakness. Biallelic pathogenic variants of gene cause severe form of NEM (NEM8), which leads...
2.
Dasar T, Aypar E, Utine G, Simsek-Kiper P
Mol Syndromol
. 2025 Feb;
16(1):49-54.
PMID: 39911177
Introduction: Opsismodysplasia is a rare autosomal recessive genetic skeletal disorder characterized by short stature, short limbs, small hands and feet, delayed bone age, severe platyspondyly, metaphyseal cupping, and facial dysmorphism....
3.
Singh S, Maurya R, Moirangthem A
Mol Syndromol
. 2025 Feb;
16(1):33-37.
PMID: 39911176
Introduction: Primary microcephaly is genetically heterogeneous. Despite the rapid evolution of scientific information and bioinformatic tools, etiology remains elusive in more than half of the affected population. A substantial fraction...
4.
Senol H, Kisa P, Kulu B, Oren H, Arslan N, Yis U
Mol Syndromol
. 2025 Feb;
16(1):93-98.
PMID: 39911175
Background: Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder characterized by aberrant triacylglycerol metabolism due to mutations in the () gene. Case Presentation: This report...
5.
Gatsis A, Alvanou M, Christidou E, Demertzidou E, Kontou A, Stathopoulou T, et al.
Mol Syndromol
. 2025 Feb;
16(1):38-42.
PMID: 39911174
Introduction: Kabuki syndrome (KS) is a rare genetic disorder with a prevalence of 1/86,000-1/32,000. Pathogenic variants in the and genes are responsible for the majority of KS cases and are...
6.
Taroua O, Askander O, Rhou H, Bouhouche A
Mol Syndromol
. 2025 Feb;
16(1):43-48.
PMID: 39911173
Introduction: Alport syndrome (AS) is a rare genetic disorder characterized by abnormalities in the kidneys, ears, and eyes. Its clinical presentation typically manifests in childhood or adolescence and varies widely...
7.
Bulut G, Turgut G, Toksoy G, Altunoglu U, Aslanger A, Uyguner Z, et al.
Mol Syndromol
. 2025 Feb;
16(1):69-76.
PMID: 39911172
Introduction: Sandestig-Stefanova syndrome (MIM:618804) is characterized by pre- and postnatal microcephaly, trigonocephaly, bilateral congenital cataracts, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, periventricular white...
8.
Massey H, Tennant S, Dean J
Mol Syndromol
. 2025 Feb;
16(1):29-32.
PMID: 39911171
Introduction: Whole-exome sequencing has led to the discovery of new genes involved in developmental delay. Two of these are the evolutionary linked proteins phosphofurin acidic cluster sorting protein 1 (PACS1)...
9.
Yalcin H, Karabay U, Cinleti T, Kisa P, Egrilmez M, Ayaz A, et al.
Mol Syndromol
. 2025 Feb;
16(1):1-10.
PMID: 39911170
Introduction: Microlissencephaly is a subtype of congenital microcephaly characterized by extreme microcephaly with simplified gyral pattern. Other brain malformations may accompany it. encodes a multi-domain transmembrane protein that is predominantly...
10.
Kablan A, Aru E
Mol Syndromol
. 2025 Feb;
16(1):55-60.
PMID: 39911169
Introduction: Kabuki syndrome (KS) is a rare syndrome, characterized by dysmorphic features, congenital abnormalities, and developmental problems. The primary genetic causes are variants in the and genes. There are few...