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1 . Academic Journal
P436: A novel pathogenic variant in NALCN gene in a newborn with CLIFAHDD syndrome
저자
by
Burak Altintas
;
Nathaniel Jensen
;
Shao Ching Tu
;
Sara Pajouhanfar
;
Korre Fairman
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101330- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
저자
by
Megan Yabumoto
;
Jessica Kianmahd
;
Meghna Singh
;
Maria F. Palafox
;
Angela Wei
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Open Access (Wiley)
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Web of Science
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7 .
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
저자
by
Alanna Strong
;
Soumya Rao
;
Sandra von Hardenberg
;
Dong Li
;
Liza L. Cox
, et al.
소스
American Journal of Medical Genetics. Part A, 191, 1227-1239
American Journal of Medical Genetics. Part A, 191, 5, pp. 1227-1239
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7 .
Near complete deletion of
KMT2D
in a college student
저자
by
Catherine Gooch
;
Jaclyn Paige Souder
;
Matthew L. Tedder
;
Jennifer Kerkhof
;
Jennifer A. Lee
, et al.
소스
Am J Med Genet A
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7 .
Neonatal hydrocephalus: an atypical presentation of malignant infantile osteopetrosis
저자
by
Diane J. Aum
;
Prapti Singh
;
Samuel R. Cortez
;
Peter Yang
;
Catherine Gooch
, et al.
소스
Child's Nervous System
. 37:3695-3703
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7 .
Immuno-skeletal Dysplasia with Neurodevelopmental Abnormalities complicated with Omenn Syndrome in a case of a compound heterozygous variants of exostosin-like 3 gene
저자
by
Sarah Mehta
;
Armen Sanosyan
;
Megan Cooper
;
Catherine Gooch
;
Jeffrey Bednarski
, et al.
소스
Clinical Immunology
. 250:109403
Full Text (Clinical Key)
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7 .
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results
저자
by
Bruce R. Korf
;
Alexander E. Katz
;
Anne Slavotinek
;
Jessica F. Wakelee
;
Katherine E. Donohue
, et al.
소스
Clin Genet
Open Access (OpenAIRE)
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7 .
Involvement of MAP3K7 in FMD2 and CSCF, delineation of genotype/phenotype correlations
저자
by
Geeske van Woerden
;
Richelle Senden
;
Charlotte de Konink
;
Rossella Avagliano Trezza
;
anwar baban
, et al.
소스
Open Access (OpenAIRE)
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7 .
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
저자
by
Kathryn Elliott
;
Siddharth Srivastava
;
Meghan C. Towne
;
Hannah Medsker
;
Catherine Gooch
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 9, iss 10
Open Access (Wiley)
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7 .
Midterm Outcomes of Heart Transplantation in Children With Genetic Disorders
저자
by
Horacio G. Carvajal
;
Catherine Gooch
;
Taylor C. Merritt
;
J. Chancellor Fox
;
Anne N. Pourney
, et al.
소스
The Annals of thoracic surgery
. 114(2)
Full Text (ScienceDirect)
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