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1 . Academic Journal
Personal journeys to and in human genetics and dysmorphology.
저자
by
Schwartz, Charles E.
;
Aylsworth, Arthur S.
;
Allanson, Judith
;
Battaglia, Agatino
;
Carey, John C.
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2024, Vol. 194 Issue 6, p1-80, 80p
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7 . Academic Journal
Nonsyndromic Microcephaly: An Overview
저자
by
Leroy, Jules G.
;
Frías, Jaime L.
.
소스
In
Advances in Pediatrics
2005 52:261-293
Full Text (ScienceDirect)
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4 . Academic Journal
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
저자
by
Nampoothiri, Sheela
;
Elcioglu, Nursel H.
;
Koca, Suleyman S.
;
Yesodharan, Dhanya
;
KK, Chandrababu
, et al.
소스
Clinical Dysmorphology; Jan2019, Vol. 28 Issue 1, p7-16, 10p
Full Text (LWW)
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7 . Academic Journal
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.
저자
by
Warren, Hannah E.
;
Louie, Raymond J.
;
Friez, Michael J.
;
Frías, Jaime L.
;
Leroy, Jules G.
, et al.
소스
Clinical Case Reports
. Nov2018, Vol. 6 Issue 11, p2252-2255. 4p.
Open Access (Wiley)
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7 . Academic Journal
New observation of sialuria prompts detection of liver tumor in previously reported patient.
저자
by
Champaigne, Neena L.
;
Leroy, Jules G.
;
Kishnani, Priya S.
;
Decaestecker, Jochen
;
Steenkiste, Edwin
, et al.
소스
Molecular Genetics & Metabolism
. Jun2016, Vol. 118 Issue 2, p92-99. 8p.
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7 . Academic Journal
Long-term observation of a patient with dominant omodysplasia
저자
by
Gordon, Barbara L.
;
Champaigne, Neena L.
;
Rogers, Curtis R.
;
Frias, Jaime L.
;
Leroy, Jules G.
.
소스
American Journal Of Medical Genetics - A
. May 01, 2014 164(5):1234-1238
Web of Science
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7 . Academic Journal
XYLT1 Mutations in Desbuquois Dysplasia Type 2.
저자
by
Bui, Catherine
;
Huber, Céline
;
Tuysuz, Beyhan
;
Alanay, Yasemin
;
Bole-Feysot, Christine
, et al.
소스
American Journal of Human Genetics
. Mar2014, Vol. 94 Issue 3, p405-414. 10p.
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7 . Academic Journal
Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
저자
by
Ostergaard, Pia
;
Simpson, Michael A.
;
Mendola, Antonella
;
Vasudevan, Pradeep
;
Connell, Fiona C.
, et al.
소스
American Journal of Human Genetics
. Feb2012, Vol. 90 Issue 2, p356-362. 7p.
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7 . Academic Journal
Pontocerebellar Hypoplasia: Review of Classification and Genetics, and Exclusion of Several Genes Known to Be Important for Cerebellar Development.
저자
by
Maricich, Stephen M.
;
Aqeeb, Kaashif A.
;
Moayedi, Yalda
;
Mathes, Erin L.
;
Patel, Millan S.
, et al.
소스
Journal of Child Neurology
. 3/1/2011, Vol. 26 Issue 3, p288-294. 7p.
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7 . Academic Journal
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
저자
by
Hoornaert, Kristien P.
;
Vereecke, Inge
;
Dewinter, Chantal
;
Rosenberg, Thomas
;
Beemer, Frits A.
, et al.
소스
European Journal of Human Genetics
. Aug2010, Vol. 18 Issue 8, p872-880. 9p. 2 Charts, 4 Graphs.
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