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1.
A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype.
Am J Med Genet A;
194(5): e63515, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38135897
2.
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.
Br J Cancer;
123(4): 619-623, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32451468
3.
MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases.
Hum Mutat;
29(7): 948-58, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-18431737
4.
Neural cell adhesion molecule L1 is required for fasciculation and routing of thalamocortical fibres and corticothalamic fibres.
Neurosci Res;
48(4): 471-5, 2004 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-15041201
5.
Abnormal renal phenotype in L1 knockout mice: a novel cause of CAKUT.
Nephrol Dial Transplant;
17 Suppl 9: 42-4, 2002.
Artículo
en Inglés
| MEDLINE | ID: mdl-12386285
6.
Structure of the murine tenascin-R gene and functional characterisation of the promoter.
Biochem Biophys Res Commun;
308(4): 940-9, 2003 Sep 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-12927810
7.
Tenascin-N: characterization of a novel member of the tenascin family that mediates neurite repulsion from hippocampal explants.
Mol Cell Neurosci;
23(2): 193-209, 2003 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-12812753
8.
Mice deficient for the HNK-1 sulfotransferase show alterations in synaptic efficacy and spatial learning and memory.
Mol Cell Neurosci;
20(4): 712-29, 2002 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-12213450
9.
Analysis of interactions of the adhesion molecule TAG-1 and its domains with other immunoglobulin superfamily members.
Mol Cell Neurosci;
20(3): 367-81, 2002 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-12139915
10.
Reduced GABAergic transmission and number of hippocampal perisomatic inhibitory synapses in juvenile mice deficient in the neural cell adhesion molecule L1.
Mol Cell Neurosci;
26(1): 191-203, 2004 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-15121190
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