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Bademci, Guney
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1

EFEMP1 haploinsufficiency causes a Marfan‐like hereditary c..:

Forghani, Irman ; Lang, Steven H. ; Rodier, Matthew J....
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

P458: EFEMP1 haploinsufficiency causes a Marfan-like heredi..:

Forghani, Irman ; Lang, Steven ; Tekin, Mustafa...
Genetics in Medicine Open.  2 (2024)  - p. 101352 , 2024
Link: https://doi.org/10.1016/..
 
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3

Recurrent ATP1A1 variant Gly903Arg causes developmental del..:

Dohrn, Maike F. ; Bademci, Guney ; Rebelo, Adriana P....
Annals of Clinical and Translational Neurology.  11 (2024)  4 - p. 1075-1079 , 2024
Link: https://doi.org/10.1002/..
 
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4

LUSTR: a new customizable tool for calling genome-wide germ..:

Lu, Jinfeng ; Toro, Camilo ; Adams, David R....
BMC Genomics.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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5

Genetic heterogeneity in hereditary hearing loss: Potential..:

Ramzan, Memoona ; Zafeer, Mohammad Faraz ; Abad, Clemer...
European Journal of Human Genetics.  32 (2024)  6 - p. 639-646 , 2024
Link: https://doi.org/10.1038/..
 
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6

ADAMTSL2 mutations determine the phenotypic severity in Gel..:

Camarena, Vladimir ; Williams, Monique M. ; Morales, Alejo A....
JCI Insight.  , 2024
Link: https://doi.org/10.1172/..
 
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7

Identification of novel MYH14 variants in families with aut..:

Duman, Duygu ; Ramzan, Memoona ; Subasioglu, Asli...
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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8

O23: Diagnostic success of genomic analyses in adults with ..:

Bivona, Stephanie ; Smith, Carson ; Bademci, Guney...
Genetics in Medicine Open.  2 (2024)  - p. 101018 , 2024
Link: https://doi.org/10.1016/..
 
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9

Exome and genome sequencing in a heterogeneous population o..:

Pucel, Jenna ; Briere, Lauren C. ; Reuter, Chloe...
Genetics in Medicine.  26 (2024)  6 - p. 101115 , 2024
Link: https://doi.org/10.1016/..
 
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10

SNUPN deficiency causes a recessive muscular dystrophy due ..:

Nashabat, Marwan ; Nabavizadeh, Nasrinsadat ; Saraçoğlu, Hilal Pırıl...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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11

Dispersed DNA variants underlie hearing loss in South Flori..:

Peart, LéShon ; Gonzalez, Joanna ; Morel Swols, Dayna...
Human Genomics.  17 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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12

Bi-allelic ATG4D variants are associated with a neurodevelo..:

Morimoto, Marie ; Bhambhani, Vikas ; Gazzaz, Nour...
npj Genomic Medicine.  8 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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13

P642: Diagnostic yield of multi-omics approach in Undiagnos..:

Bademci, Guney ; Bivona, Stephanie ; Peart, LeShon...
Genetics in Medicine Open.  1 (2023)  1 - p. 100707 , 2023
Link: https://doi.org/10.1016/..
 
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14

Deletion of first noncoding exon in ANKRD11 leads to KBG sy..:

Borja, Nicholas ; Zafeer, Mohammad Faraz ; Rodriguez, Jeimy Alfonso...
American Journal of Medical Genetics Part A.  191 (2023)  4 - p. 1044-1049 , 2023
Link: https://doi.org/10.1002/..
 
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15

P121: Comparison of diagnostic outcome amongst different et..:

Bivona, Stephanie ; Tekin, Mustafa ; Bademci, Guney...
Genetics in Medicine Open.  1 (2023)  1 - p. 100150 , 2023
Link: https://doi.org/10.1016/..
 
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