Detalles de la búsqueda
1.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33508234
2.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genet Med
; 26(4): 101057, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38158856
3.
Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.
Kidney Int
; 101(3): 473-484, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34780871
4.
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
Hum Mol Genet
; 29(14): 2435-2450, 2020 08 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32620954
5.
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
Am J Hum Genet
; 104(1): 94-111, 2019 01 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30609410
6.
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Am J Med Genet A
; 188(2): 498-508, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34697879
7.
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.
Hum Genet
; 140(12): 1733-1751, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34647195
8.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
; 101(5): 789-802, 2017 Nov 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29100090
9.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(2): 352-363, 2017 Feb 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28132691
10.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Genet Med
; 21(11): 2532-2542, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31036918
11.
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.
Hum Genomics
; 12(1): 11, 2018 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29490693
12.
The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes.
J Am Soc Nephrol
; 29(8): 2110-2122, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30002222
13.
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Ann Neurol
; 82(4): 562-577, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28892560
14.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
; 101(6): 1034, 2017 12 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29220675
15.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(4): 689, 2017 04 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28388435
16.
Habitat suitability modelling of Koklass pheasant (Pucrasia macrolopha) in moist temperate forest.
PLoS One
; 19(2): e0296921, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38359051
17.
Morphological Structure and Distribution of Hairiness on Different Body Parts of Apis mellifera with an Implication on Pollination Biology and a Novel Method to Measure the Hair Length.
Insects
; 13(2)2022 Feb 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35206762
18.
Feeding habits and habitat use of barking deer (Muntiacus vaginalis) in Himalayan foothills, Pakistan.
PLoS One
; 16(1): e0245279, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33450743
19.
A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.
Eur J Med Genet
; 64(7): 104226, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-33872773
20.
Transcatheter aortic valve implantation facilitated by right common carotid cut-down and innominate artery angioplasty with simultaneous right coronary artery vein graft percutaneous coronary intervention in a patient with mid aortic syndrome: a case report.
Eur Heart J Case Rep
; 4(4): 1-5, 2020 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-32974444