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1 . Academic Journal
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
저자
by
Pagnamenta, Alistair T.
;
Yu, Jing
;
Walker, Susan
;
Noble, Alexandra J.
;
Lord, Jenny
, et al.
소스
In
The American Journal of Human Genetics
6 June 2024 111(6):1140-1164
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7 . Academic Journal
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
저자
by
Borras, Silvia
;
Clark, Caroline
;
Dean, John
;
Miedzybrodzka, Zosia
;
Ross, Alison
, et al.
소스
In
Genetics in Medicine
February 2024 26(2)
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7 . Academic Journal
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes
저자
by
Živná, Martina
;
Kidd, Kendrah
;
Zaidan, Mohamad
;
Vyleťal, Petr
;
Barešová, Veronika
, et al.
소스
In
Kidney International
December 2020 98(6):1589-1604
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7 . Academic Journal
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
저자
by
Tolonen, Jussi Pekka
;
Parolin Schnekenberg, Ricardo
;
McGowan, Simon
;
Sims, David
;
McEntagart, Meriel
, et al.
소스
Movement Disorders
. Jan2024, Vol. 39 Issue 1, p141-151. 11p.
Full Text (Wiley)
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7 . Academic Journal
The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease.
저자
by
Durkie, Miranda
;
Watson, Christopher M.
;
Winship, Peter
;
Hogg, Anne-Cecile
;
Nyanhete, Rodney
, et al.
소스
Human Mutation; 7/28/2023, p1-8, 8p
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7 . Academic Journal
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature
저자
by
Shaw-Smith, Charles
.
소스
In
European Journal of Medical Genetics
January-February 2010 53(1):6-13
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3 . Dissertation/ Thesis
Identification of hepatocyte nuclear factor 1β-associated disease
저자
by
Clissold, Rhian
;
Ellard, Sian
;
Bingham, Coralie
;
Shaw-Smith, Charles
.
소스
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6 . Academic Journal
Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations.
저자
by
Rech, Megan E.
;
McCarthy, John M.
;
Chen, Chun‐An
;
Edmond, Jane C.
;
Shah, Veeral S.
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2020, Vol. 182 Issue 6, p1426-1437, 12p
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7 . Periodical
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to RENmutations identifies distinct clinical subtypes
저자
by
Živná, Martina
;
Kidd, Kendrah
;
Zaidan, Mohamad
;
Vyleťal, Petr
;
Barešová, Veronika
, et al.
소스
Kidney International; December 2020, Vol. 98 Issue: 6 p1589-1604, 16p
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7 . Academic Journal
DLG4-related synaptopathy: a new rare brain disorder
저자
by
Rodríguez-Palmero, Agustí
;
Boerrigter, Melissa Maria
;
Gómez-Andrés, David
;
Aldinger, Kimberly A.
;
Marcos-Alcalde, Íñigo
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(5):888-899
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