CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

J E H Bergman; N Janssen; L H Hoefsloot; M C J Jongmans; R M W Hofstra; C M A van Ravenswaaij-Arts

doi:10.1136/jmg.2010.087106

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Phenotypes

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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

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	Abstract	Full	Pdf
Mar 2011	887	257	207
Apr 2011	302	36	83
May 2011	208	56	105
Jun 2011	118	65	54
Jul 2011	159	32	27
Aug 2011	155	47	33
Sep 2011	106	89	66
Oct 2011	116	74	72
Nov 2011	163	74	58
Dec 2011	162	80	47
Jan 2012	194	78	55
Feb 2012	152	72	63
Mar 2012	222	60	38
Apr 2012	188	36	33
May 2012	189	40	29
Jun 2012	166	43	31
Jul 2012	179	34	42
Aug 2012	153	42	34
Sep 2012	207	58	44
Oct 2012	179	65	46
Nov 2012	166	75	39
Dec 2012	73	28	29
Jan 2013	115	35	32
Feb 2013	90	21	33
Mar 2013	119	36	39
Apr 2013	107	35	40
May 2013	76	22	23
Jun 2013	48	25	20
Jul 2013	76	36	42
Aug 2013	45	32	26
Sep 2013	32	35	29
Oct 2013	54	45	42
Nov 2013	37	22	21
Dec 2013	34	30	26
Jan 2014	70	21	34
Feb 2014	35	33	32
Mar 2014	51	25	31
Apr 2014	46	22	26
May 2014	56	15	18
Jun 2014	26	22	17
Jul 2014	47	28	27
Aug 2014	39	10	11
Sep 2014	34	24	24
Oct 2014	35	39	31
Nov 2014	29	26	24
Dec 2014	27	10	16
Jan 2015	39	17	16
Feb 2015	38	27	26
Mar 2015	63	16	17
Apr 2015	30	34	20
May 2015	25	8	14
Jun 2015	21	26	23
Jul 2015	45	22	19
Aug 2015	24	16	15
Sep 2015	43	21	9
Oct 2015	35	14	11
Nov 2015	44	21	21
Dec 2015	15	7	9
Jan 2016	34	15	16
Feb 2016	31	21	25
Mar 2016	53	17	21
Apr 2016	52	13	14
May 2016	16	10	8
Jun 2016	39	17	13
Jul 2016	33	11	11
Aug 2016	53	14	13
Sep 2016	60	16	16
Oct 2016	34	18	14
Nov 2016	37	16	15
Dec 2016	28	18	10
Jan 2017	33	19	19
Feb 2017	41	15	7
Mar 2017	128	133	16
Apr 2017	117	199	7
May 2017	57	182	11
Jun 2017	63	62	11
Jul 2017	141	36	19
Aug 2017	137	34	18
Sep 2017	121	25	10
Oct 2017	117	27	8
Nov 2017	166	24	16
Dec 2017	129	11	9
Jan 2018	110	13	8
Feb 2018	108	7	3
Mar 2018	152	22	8
Apr 2018	199	33	18
May 2018	149	20	16
Jun 2018	146	12	9
Jul 2018	164	25	17
Aug 2018	153	34	22
Sep 2018	111	41	14
Oct 2018	153	12	18
Nov 2018	181	17	10
Dec 2018	110	22	11
Jan 2019	167	26	18
Feb 2019	149	19	13
Mar 2019	156	26	14
Apr 2019	174	20	17
May 2019	194	29	27
Jun 2019	119	16	11
Jul 2019	116	17	7
Aug 2019	124	14	7
Sep 2019	106	8	6
Oct 2019	159	40	20
Nov 2019	193	27	19
Dec 2019	133	14	13
Jan 2020	179	21	12
Feb 2020	186	17	10
Mar 2020	180	12	12
Apr 2020	201	12	6
May 2020	270	23	12
Jun 2020	181	20	13
Jul 2020	155	14	6
Aug 2020	138	10	12
Sep 2020	150	10	6
Oct 2020	233	25	14
Nov 2020	366	67	24
Dec 2020	209	19	6
Jan 2021	227	16	16
Feb 2021	284	34	30
Mar 2021	224	37	14
Apr 2021	181	19	13
May 2021	99	28	30
Jun 2021	27	22	24
Jul 2021	20	14	4
Aug 2021	25	20	5
Sep 2021	19	19	13
Oct 2021	308	41	23
Nov 2021	355	50	23
Dec 2021	266	46	9
Jan 2022	394	101	18
Feb 2022	294	79	13
Mar 2022	426	94	21
Apr 2022	355	96	15
May 2022	366	90	7
Jun 2022	351	104	16
Jul 2022	396	92	5
Aug 2022	362	105	20
Sep 2022	355	105	12
Oct 2022	404	114	23
Nov 2022	432	134	23
Dec 2022	352	86	8
Jan 2023	532	93	11
Feb 2023	325	79	6
Mar 2023	415	103	10
Apr 2023	346	83	9
May 2023	245	97	10
Jun 2023	335	91	7
Jul 2023	278	81	2
Aug 2023	275	88	8
Sep 2023	328	91	12
Oct 2023	433	92	6
Nov 2023	432	106	13
Dec 2023	434	89	8
Jan 2024	432	106	17
Feb 2024	304	95	10
Mar 2024	341	98	15
Total	25865	6974	3414

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