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publishDate:"[2000 TO 2009]"
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PubPharm (59)
1
Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome
enthalten in:
American journal of medical genetics. Part A
| 2009
von
Yatsenko, S.
|
del Valle Torrado, M.
|
Fernandes, P.
| +4
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2
Diagnosis of primary immunodeficiency : let your eyes do the talking
enthalten in:
The Journal of allergy and clinical immunology
| 2009
von
Shah, S.
|
Bacino, C.
|
Sheehan, A.
| +1
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3
Diagnosis of primary immunodeficiency: Let your eyes do the talking
enthalten in:
The journal of allergy and clinical immunology
| 2009
von
Shah, S.
|
Bacino, C.
|
Sheehan, A.
| +1
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4
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients
enthalten in:
American journal of medical genetics. Part A
| 2009
von
Sutton, V.
|
Plunkett, K.
|
Dang, D.
| +3
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5
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
enthalten in:
Human molecular genetics
| 2009
von
Carvalho, C.
|
Zhang, F.
|
Liu, P.
| +15
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6
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia
enthalten in:
American journal of human genetics
| 2009
von
Krakow, D.
|
Vriens, J.
|
Camacho, N.
| +14
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7
Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
enthalten in:
American journal of human genetics
| 2009
von
Krakow, D.
|
Vriens, J.
|
Camacho, N.
| +14
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8
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
enthalten in:
Human molecular genetics
| 2009
von
Carvalho, C.
|
Zhang, F.
|
Liu, P.
| +15
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9
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
enthalten in:
Nature genetics
| 2008
von
Brunetti-Pierri, N.
|
Berg, J.
|
Scaglia, F.
| +37
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10
Genomic imbalances in neonates with birth defects : high detection rates by using chromosomal microarray analysis
enthalten in:
Pediatrics
| 2008
von
Lu, X.
|
Phung, M.
|
Shaw, C.
| +12
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Erscheinungsjahr: 2000-2009
Medienart
59
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38
Gedruckte Aufsätze
21
E-Artikel
21
E-Ressourcen
Zeitschriftentitel
10
American journal of human genetics
9
American journal of medical genetics. Part A
7
American journal of medical genetics / C
6
American journal of medical genetics
6
BMC medical genetics
3
Nature genetics
2
BMC Medical Genetics
2
Human molecular genetics
2
Human mutation
2
Neurogenetics
2
Pediatrics
1
European journal of human genetics : EJHG
1
Hemoglobin
1
Journal of autism and developmental disorders
1
PloS one
1
The Journal of allergy and clinical immunology
1
The Journal of clinical endocrinology and metab...
1
The journal of allergy and clinical immunology
1
The journal of clinical endocrinology & metabolism
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Thema
26
Journal Article
15
Research Support, Non-U.S. Gov't
8
Case Reports
8
Research Support, N.I.H., Extramural
5
Research Support, U.S. Gov't, P.H.S.
3
familial hemihyperplasia
3
hemihyperplasia
3
hemihypertrophy
3
imprinting
3
overgrowth
2
Alagille Syndrome
2
CHD7 protein, human
2
Charge Syndrome
2
Choanal Atresia
2
Comment
2
Contractile Proteins
2
DNA Helicases
2
DNA-Binding Proteins
2
EC 3.6.4.-
2
EC 3.6.4.12
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Erscheinungszeitraum
2000-2009
8
2009
9
2008
6
2007
3
2006
11
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11
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2003
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2000
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