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Innes, A Micheil
298  results:
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1

DAG1 haploinsufficiency is associated with sporadic and fam..:

Traverso, Monica ; Baratto, Serena ; Iacomino, Michele...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Investigations of an individual with a Marfanoid habitus, m..:

Margot, Henri ; Pizano, Adrien ; Amestoy, Anouck...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  , 2024
Link: https://doi.org/10.1002/..
 
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3

Variants in ZFX are associated with an X-linked neurodevelo..:

Shepherdson, James L. ; Hutchison, Katie ; Don, Dilan Wellalage...
The American Journal of Human Genetics.  111 (2024)  3 - p. 487-508 , 2024
Link: https://doi.org/10.1016/..
 
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4

A recurrent missense variant in the E3 ubiquitin ligase sub..:

Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric...
Genetics in Medicine.  26 (2024)  6 - p. 101119 , 2024
Link: https://doi.org/10.1016/..
 
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5

Variants of NAV3, a neuronal morphogenesis protein, cause i..:

Ghaffar, Amama ; Akhter, Tehmeena ; Strømme, Petter...
Communications Biology.  7 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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6

Syndromic or non-syndromic congenital ichthyosis? A case re..:

Aubry, Rachel L ; Innes, A. Micheil ; Haber, Richard M
SAGE Open Medical Case Reports.  12 (2024)  - p. , 2024
Link: https://doi.org/10.1177/..
 
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7

Clinical study of ferredoxin-reductase-related mitochondrio..:

Campbell, Teresa ; Slone, Jesse ; Metzger, Hallie...
Genetics in Medicine Open.  2 (2024)  - p. 100841 , 2024
Link: https://doi.org/10.1016/..
 
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8

A Study on the Incidence and Prevalence of 5q Spinal Muscul..:

Price, Tiffany R. ; Hodgkinson, Victoria ; Westbury, Grace...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.  , 2024
Link: https://doi.org/10.1017/..
 
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9

De novo variants in ATXN7L3 lead to developmental delay, hy..:

Harel, Tamar ; Spicher, Camille ; Scheer, Elisabeth...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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10

Insights from the hereditary endocrine clinic:

Innes, A. Micheil ; van Galen, Paulien
The American Journal of Surgery.  229 (2024)  - p. 203-204 , 2024
Link: https://doi.org/10.1016/..
 
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11

Generation and characterization of a human iPSC line and ge..:

Hua, Michelle ; Williams, Laura ; Burns, Kaylan...
Stem Cell Research.  76 (2024)  - p. 103344 , 2024
Link: https://doi.org/10.1016/..
 
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12

P295: Expanding the prenatal phenotype of a rare syndrome d..:

Dunn, Emily ; Smith, Carly ; Loucks, Catrina..
Genetics in Medicine Open.  2 (2024)  - p. 101191 , 2024
Link: https://doi.org/10.1016/..
 
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13

Molecular characterization of 13 patients with PIK3CA‐relat..:

de Kock, Leanne ; Cuillerier, Alexanne ; Gillespie, Meredith...
American Journal of Medical Genetics Part A.  194 (2023)  3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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14

From "ACAN" to "I CAN": Restoring wellness in a boy with se..:

Ochoa, Maria ; Yang, Ashlee ; Kollias, Carrie...
Bone Reports.  18 (2023)  - p. 101663 , 2023
Link: https://doi.org/10.1016/..
 
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15

De novo variants in GATAD2A in individuals with a neurodeve..:

Werren, Elizabeth A. ; Guxholli, Alba ; Jones, Natasha...
Human Genetics and Genomics Advances.  4 (2023)  3 - p. 100198 , 2023
Link: https://doi.org/10.1016/..
 
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