Detalles de la búsqueda
1.
A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.
Am J Med Genet A
; : e63782, 2024 Jun 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38842389
2.
A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease.
Am J Med Genet A
; 191(1): 220-227, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36214313
3.
Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.
Am J Med Genet A
; 191(8): 2232-2239, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37218527
4.
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.
Neuropediatrics
; 54(4): 225-238, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36787800
5.
A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.
Am J Med Genet A
; 188(6): 1890-1895, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35253374
6.
15-LOX-1 has diverse roles in the resensitization of resistant cancer cell lines to doxorubicin.
J Cell Physiol
; 235(5): 4965-4978, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31663148
7.
Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.
Cytogenet Genome Res
; 160(6): 309-315, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32599602
8.
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
Brain
; 2024 Apr 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-38637313
9.
Letter to the Editor regarding "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant" by Kiliç and Kosukçu, "An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al.
Am J Med Genet A
; 194(4): e63507, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38102793
10.
Systemic Primary Carnitine Deficiency: A Case Report with Homozygoys SLC22A5 Gene Mutation.
Klin Padiatr
; 234(4): 244-245, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35820418
11.
Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder.
Eur J Med Genet
; 66(9): 104809, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37474017
12.
Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.
Eur J Med Genet
; 62(12): 103608, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30590172
13.
SERAC1 gene mutation presented with markedly alpha fetoprotein elevation: case report.
Acta Neurol Belg
; 124(1): 307-309, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37306826
Resultados
1 -
13
de 13
1
Próxima >
>>