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X
Kresge, Christina
23  Ergebnisse:
Personensuche X
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1

P284: Clinical overlap in two patients with 46,XY DSD and l..:

Shields, Kathleen ; Kresge, Christina ; Pletcher, Beth..
Genetics in Medicine Open.  2 (2024)  - p. 101180 , 2024
Link: https://doi.org/10.1016/..
 
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2

SMPD4 regulates mitotic nuclear envelope dynamics and its l..:

Smits, Daphne J ; Schot, Rachel ; Krusy, Nathalie...
Brain.  146 (2023)  8 - p. 3528-3541 , 2023
Link: https://doi.org/10.1093/..
 
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3

Ornithine transcarbamylase deficiency and pregnancy: A case..:

Pinho, Gabriella ; Ross, Gabriela ; Krishnamoorthy, Kaila...
Case Reports in Women's Health.  34 (2022)  - p. e00390 , 2022
Link: https://doi.org/10.1016/..
 
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4

Novel variants in KAT6B spectrum of disorders expand our kn..:

Yabumoto, Megan ; Kianmahd, Jessica ; Singh, Meghna...
Molecular Genetics & Genomic Medicine.  9 (2021)  10 - p. , 2021
Link: https://doi.org/10.1002/..
 
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5

46,XY DSD and limb abnormalities in a female with a de novo..:

Kunitomo, Mia ; Khokhar, Aditi ; Kresge, Christina..
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 2887-2890 , 2020
Link: https://doi.org/10.1002/..
 
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6

Child Neurology: Type 1 sialidosis due to a novel mutation ..:

Aravindhan, Akilandeswari ; Veerapandiyan, Aravindhan ; Earley, Chelsea...
Neurology.  90 (2018)  13 - p. 622-624 , 2018
Link: https://doi.org/10.1212/..
 
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7

SMPD4 regulates mitotic nuclear envelope dynamics and its l..:

Smits, Daphne J ; Schot, Rachel ; Krusy, Nathalie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393401/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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8

Biallelic variants in ZNF142 lead to a syndromic neurodevel..:

Christensen, Maria B ; Levy, Amanda M ; Mohammadi, Nazanin A...
https://discovery.ucl.ac.uk/id/eprint/10149455/3/Magrinelli_Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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9

MYT1L-associated neurodevelopmental disorder: description o..:

Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-021-02383-z.  , 2022
Link: https://hal.science/hal-..
 
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10

MYT1L-associated neurodevelopmental disorder: description o..:

Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-021-02383-z.  , 2022
Link: https://hal.science/hal-..
 
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11

Ornithine transcarbamylase deficiency and pregnancy: A case..:

Pinho, Gabriella ; Ross, Gabriela ; Krishnamoorthy, Kaila...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9117120/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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12

MYT1L-associated neurodevelopmental disorder: description o..:

Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-021-02383-z.  , 2022
Link: https://hal.science/hal-..
 
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13

MYT1L-associated neurodevelopmental disorder: description o..:

Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-021-02383-z.  , 2022
Link: https://hal.science/hal-..
 
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14

MYT1L-associated neurodevelopmental disorder: description o..:

Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-021-02383-z.  , 2022
Link: https://hal.science/hal-..
 
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15

MYT1L-associated neurodevelopmental disorder: description o..:

Coursimault, Juliette ; Guerrot, Anne-Marie ; Morrow, Michelle...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-021-02383-z.  , 2022
Link: https://hal.science/hal-..
 
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