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Mendelsohn, Nancy J.
118  results:
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1

SUFU haploinsufficiency causes a recognisable neurodevelopm..:

Serpieri, Valentina ; D'Abrusco, Fulvio ; Dempsey, Jennifer C...
Journal of Medical Genetics.  59 (2021)  9 - p. 888-894 , 2021
Link: https://doi.org/10.1136/..
 
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2

Expanding the phenotype of Wiedemann‐Steiner syndrome: Cran..:

Giangiobbe, Sara ; Caraffi, Stefano Giuseppe ; Ivanovski, Ivan...
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 2877-2886 , 2020
Link: https://doi.org/10.1002/..
 
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3

Genotype–phenotype correlation at codon 1740 ofSETD2:

Rabin, Rachel ; Radmanesh, Alireza ; Glass, Ian A....
American Journal of Medical Genetics Part A.  182 (2020)  9 - p. 2037-2048 , 2020
Link: https://doi.org/10.1002/..
 
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4

A patient with germ-line gain-of-function PDGFRB p.N666H mu..:

Pond, Dinel ; Arts, Florence A. ; Mendelsohn, Nancy J....
Genetics in Medicine.  20 (2018)  1 - p. 142-150 , 2018
Link: https://doi.org/10.1038/..
 
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5

Ten years of the Hunter Outcome Survey (HOS): insights, ach..:

Muenzer, Joseph ; Jones, Simon A. ; Tylki-Szymańska, Anna...
Orphanet Journal of Rare Diseases.  12 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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6

Intrafamilial variability in the clinical presentation of m..:

Ficicioglu, Can ; Giugliani, Roberto ; Harmatz, Paul...
Molecular Genetics and Metabolism.  120 (2017)  1-2 - p. S46 , 2017
Link: https://doi.org/10.1016/..
 
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7

Retinal dystrophy in two boys with Costello syndrome due to..:

Pierpont, Mary Ella ; Richards, Mary ; Engel, W. Keith..
American Journal of Medical Genetics Part A.  173 (2017)  5 - p. 1342-1347 , 2017
Link: https://doi.org/10.1002/..
 
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8

Intrafamilial variability in the clinical manifestations of..:

Ficicioglu, Can ; Giugliani, Roberto ; Harmatz, Paul...
American Journal of Medical Genetics Part A.  176 (2017)  2 - p. 301-310 , 2017
Link: https://doi.org/10.1002/..
 
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9

POGZ truncating alleles cause syndromic intellectual disabi..:

White, Janson ; Beck, Christine R. ; Harel, Tamar...
Genome Medicine.  8 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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10

The natural history of growth in patients with Hunter syndr..:

Parini, Rossella ; Jones, Simon A. ; Harmatz, Paul R...
Molecular Genetics and Metabolism.  117 (2016)  4 - p. 438-446 , 2016
Link: https://doi.org/10.1016/..
 
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11

Rapid molecular diagnostics of severe primary immunodeficie..:

Yu, Hui ; Zhang, Victor Wei ; Stray-Pedersen, Asbjørg...
Journal of Allergy and Clinical Immunology.  138 (2016)  4 - p. 1142-1151.e2 , 2016
Link: https://doi.org/10.1016/..
 
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12

LG-55CASE REPORT OF AN OPTIC PATHWAY GLIOMA IN A PATIENT WI..:

Skrypek, Mary ; Bendel, Anne ; Kebriaei, Meysam...
Neuro-Oncology.  18 (2016)  suppl 3 - p. iii91.2-iii91 , 2016
Link: https://doi.org/10.1093/..
 
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13

Levels of glycosaminoglycans in the cerebrospinal fluid of ..:

Hendriksz, Christian J. ; Muenzer, Joseph ; Vanderver, Adeline...
Molecular Genetics and Metabolism Reports.  5 (2015)  - p. 103-106 , 2015
Link: https://doi.org/10.1016/..
 
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14

Identifying the need for a multidisciplinary approach for e..:

Choy, Yew Sing ; Bhattacharya, Kaustuv ; Balasubramaniam, Shanti...
Molecular Genetics and Metabolism.  115 (2015)  1 - p. 41-47 , 2015
Link: https://doi.org/10.1016/..
 
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15

Ear, nose and throat and hernia surgeries in children with ..:

Morin, Isabelle ; Mendelsohn, Nancy ; Burton, Barbara...
Molecular Genetics and Metabolism.  114 (2015)  2 - p. S82 , 2015
Link: https://doi.org/10.1016/..
 
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